Journal articles: 'Autosomal recessive disorders'

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May, A. "Autosomal recessive disorders." BMJ 298, no. 6676 (March 25, 1989): 830. http://dx.doi.org/10.1136/bmj.298.6676.830-c.

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Mokhtar, M. M., S. M. Kotb, and S. R. Ismail. "Autosomal recessive disorders among patients attending the genetics clinic in Alexandria." Eastern Mediterranean Health Journal 4, no. 3 (May 15, 1998): 470–79. http://dx.doi.org/10.26719/1998.4.3.470.

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A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01] A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]

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Landfeldt, Erik. "Consanguinity and autosomal recessive neuromuscular disorders." Developmental Medicine & Child Neurology 58, no. 8 (March 17, 2016): 796–97. http://dx.doi.org/10.1111/dmcn.13112.

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Vallance, Hilary, and Jason Ford. "Carrier Testing for Autosomal- Recessive Disorders." Critical Reviews in Clinical Laboratory Sciences 40, no. 4 (January 2003): 473–97. http://dx.doi.org/10.1080/10408360390247832.

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Bundey, S., and I. D. Young. "Low segregation ratios in autosomal recessive disorders." Journal of Medical Genetics 30, no. 6 (June 1, 1993): 449–51. http://dx.doi.org/10.1136/jmg.30.6.449.

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Oosterwijk, J. C. "Low segregation ratios in autosomal recessive disorders." Journal of Medical Genetics 31, no. 1 (January 1, 1994): 85–86. http://dx.doi.org/10.1136/jmg.31.1.85-b.

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Ohishi, Masamichi, Sadako Kai, Satoru Ozeki, and Hideo Tashiro. "Alveolar synechia, ankyloblepharon, and ectodermal disorders: An autosomal recessive disorder?" American Journal of Medical Genetics 38, no. 1 (January 1, 1991): 13–15. http://dx.doi.org/10.1002/ajmg.1320380104.

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Bastioli, Guendalina, Maria Regoni, Federico Cazzaniga, Chiara Maria Giulia De Luca, Edoardo Bistaffa, Letizia Zanetti, Fabio Moda, Flavia Valtorta, and Jenny Sassone. "Animal Models of Autosomal Recessive Parkinsonism." Biomedicines 9, no. 7 (July 13, 2021): 812. http://dx.doi.org/10.3390/biomedicines9070812.

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Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

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Quelle-Regaldie, Ana, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, and Laura Sánchez. "Zebrafish Models of Autosomal Recessive Ataxias." Cells 10, no. 4 (April 8, 2021): 836. http://dx.doi.org/10.3390/cells10040836.

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Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them. Autosomal recessive ataxias, which are characterized by neuronal and multisystemic features, have significant overlapping symptoms with other complex multisystemic recessive disorders. The generation of animal models of neurodegenerative disorders increases our knowledge of their cellular and molecular mechanisms and helps in the search for new therapies. Among animal models, the zebrafish, which shares 70% of its genome with humans, offer the advantages of being small in size and demonstrating rapid development, making them optimal for high throughput drug and genetic screening. Furthermore, embryo and larval transparency allows to visualize cellular processes and central nervous system development in vivo. In this review, we discuss the contributions of zebrafish models to the study of autosomal recessive ataxias characteristic phenotypes, behavior, and gene function, in addition to commenting on possible treatments found in these models. Most of the zebrafish models generated to date recapitulate the main features of recessive ataxias.

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Mueller, R. F., and D. T. Bishop. "Autozygosity mapping, complex consanguinity, and autosomal recessive disorders." Journal of Medical Genetics 30, no. 9 (September 1, 1993): 798–99. http://dx.doi.org/10.1136/jmg.30.9.798.

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Embiruçu, Emília Katiane, Marcília Lima Martyn, David Schlesinger, and Fernando Kok. "Autosomal recessive ataxias: 20 types, and counting." Arquivos de Neuro-Psiquiatria 67, no. 4 (December 2009): 1143–56. http://dx.doi.org/10.1590/s0004-282x2009000600036.

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More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.

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Garg, Abhimanyu. "Lipodystrophies: Genetic and Acquired Body Fat Disorders." Journal of Clinical Endocrinology & Metabolism 96, no. 11 (November 1, 2011): 3313–25. http://dx.doi.org/10.1210/jc.2011-1159.

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Abstract Context: Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by selective loss of body fat and predisposition to insulin resistance. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Evidence Acquisition and Synthesis: Both original and review articles were found via PubMed search reporting on clinical features and management of various types of lipodystrophies and were integrated with the author's knowledge of the field. Conclusion: The autosomal recessive congenital generalized lipodystrophy and autosomal dominant familial partial lipodystrophy (FPL) are the two most common types of genetic lipodystrophies. Mutations in AGPAT2, BSCL2, CAV1, and PTRF have been reported in congenital generalized lipodystrophy and in LMNA, PPARG, AKT2, and PLIN1 in FPL. CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy. Recently, an autosomal recessive autoinflammatory lipodystrophy syndrome was reported to be due to PSMB8 mutation. Molecular genetic bases of many rare forms of genetic lipodystrophies remain to be elucidated. The most prevalent subtype of acquired lipodystrophy currently occurs with prolonged duration of protease inhibitor-containing, highly-active antiretroviral therapy in HIV-infected patients. The acquired generalized and partial lipodystrophies are mainly autoimmune in origin and display complement abnormalities. Localized lipodystrophies occur due to drug or vaccine injections, pressure, panniculitis, and other unknown reasons. The current management includes cosmetic surgery and early identification and treatment of metabolic and other complications with diet, exercise, hypoglycemic drugs, and lipid-lowering agents.

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JAOUAD, I. CHERKAOUI, S. CHAFAÏ ELALAOUI, A. SBITI, F. ELKERH, L. BELMAHI, and A. SEFIANI. "CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS." Journal of Biosocial Science 41, no. 5 (May 12, 2009): 575–81. http://dx.doi.org/10.1017/s0021932009003393.

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SummaryConsanguineous marriage is traditionally common throughout Arab countries. This leads to an increased birth prevalence of infants with recessive disorders, congenital malformations, morbidity and mortality. The aim of this study was to evaluate the rate of consanguineous marriage in families with autosomal recessive diseases, and to compare it with the average rate of consanguinity in the Moroccan population. The study was conducted in the Department of Medical Genetics in Rabat on 176 families with autosomal recessive diseases diagnosed and confirmed by clinical, radiological, enzymatic or molecular investigations. The rate of consanguinity was also studied in 852 families who had infants with trisomy 21 confirmed by karyotyping. These families were chosen because: (i) there is no association between trisomy 21 and consanguinity, (ii) these cases are referred from different regions of Morocco and (iii) they concern all social statuses. Among 176 families with autosomal recessive disorders, consanguineous marriages comprised 59.09% of all marriages. The prevalence of consanguinity in Morocco was found to be 15.25% with a mean inbreeding coefficient of 0.0065. The differences in the rates of consanguineous marriages were highly significant when comparing the general population and couples with offspring affected by autosomal recessive conditions. These results place Morocco among the countries in the world with high rates of consanguinity. Autosomal recessive disorders are strongly associated with consanguinity. This study better defines the health risks associated with consanguinity for the development of genetic educational guidelines targeted at the public and the health sector.

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Mannucci, Pier Mannuccio, Stefano Duga, and Flora Peyvandi. "Recessively inherited coagulation disorders." Blood 104, no. 5 (September 1, 2004): 1243–52. http://dx.doi.org/10.1182/blood-2004-02-0595.

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Abstract Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.

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Lynch, Sally Ann, Ellen Crushell, Deborah M. Lambert, Niall Byrne, Kathleen Gorman, Mary D. King, Andrew Green, et al. "Catalogue of inherited disorders found among the Irish Traveller population." Journal of Medical Genetics 55, no. 4 (January 22, 2018): 233–39. http://dx.doi.org/10.1136/jmedgenet-2017-104974.

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Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios.Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population.Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers.Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication.Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group.

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Teebi, A. S. "Autosomal recessive disorders among Arabs: an overview from Kuwait." Journal of Medical Genetics 31, no. 3 (March 1, 1994): 224–33. http://dx.doi.org/10.1136/jmg.31.3.224.

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Murgai, Aditya A., and Mandar S. Jog. "Can heterozygotes of autosomal recessive disorders have clinical manifestations?" Movement Disorders 33, no. 8 (April 17, 2018): 1368–69. http://dx.doi.org/10.1002/mds.27394.

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Veillette, André, Luis-Alberto Pérez-Quintero, and Sylvain Latour. "X-linked lymphoproliferative syndromes and related autosomal recessive disorders." Current Opinion in Allergy and Clinical Immunology 13, no. 6 (December 2013): 614–22. http://dx.doi.org/10.1097/aci.0000000000000008.

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Finsterer, Josef. "Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 36, no. 4 (July 2009): 409–28. http://dx.doi.org/10.1017/s0317167100007733.

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Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.**Please see page 424 for abbreviation list.

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Barbelanne, Marine, and William Y. Tsang. "Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly." BioMed Research International 2014 (2014): 1–13. http://dx.doi.org/10.1155/2014/547986.

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Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.

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Ryznychuk, M. O., T. V. Khmara, M. I. Kryvchanska, and I. I. Zamorskii. "Hereditary tubulopathies including the associated bone disease." Regulatory Mechanisms in Biosystems 9, no. 1 (April 14, 2018): 41–46. http://dx.doi.org/10.15421/021805.

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Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through the glomeruli into tubules, which determines the development of the disease. This review addresses the tubulopathies accompanying bone disease, namely: de Tony-Debre-Fanconi syndrome (autosomal dominant, autosomal recessive, X-linked), renal distal metabolic acidosis type I (classic, autosomal dominant, autosomal recessive inheritance), renal distal tubular metabolic acidosis I (autosomal dominant, autosomal recessive inheritance) and type II (autosomal recessive inheritance accompanying delayed mental development and eye disorders), combined distal and proximal renal tubular metabolic acidosis type III (autosomal recessive inheritance characterized by osteoporosis), hypophosphatemia rickets (X-linked dominant, autosomal dominant, primary hypercalciuria, autosomal recessive inheritance). However, the diagnosis of tubulopathy remains complex and requires expensive laboratory equipment and specialist expertise; it can be diagnosed in children showing the following symptoms: impaired growth, vitamin D resistant rickets (lower limb deformities between 2 and 3 years of age). In the evaluation of such patients urine analysis is commonly used (levels of calcium, phosphorus, pH, bicarbonate, sodium, potassium, glucose, creatinine, protein, amino acids), blood count (levels of creatinine, uric acid, alkaline phosphatase, glucose, pH and sodium, bicarbonate, potassium, chloride, calcium, phosphorus ions), ultrasound of the kidneys to detect nephrocalcinosis. Determination of serum parathyroid hormone concentration, vitamin D metabolites, aldosterone and plasma renin activity, cysteine lymphocyte concentration (suspicion to diagnose cystinosis) and ophthalmologist examination may also be used as additional diagnostic methods. Despite the fact that most tubulopathies can be diagnosed clinically, molecular genetic studies are needed to clarify the type of inheritance and prognosis. The use of calcitriol will help in the management of phosphorous levels in the blood. Correction of vitamin D deficiency state is not required. Calcitriol supplementation may prevent secondary hyperparathyroidism resulting from increased phosphate intake.

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Руденская, Г. Е., В. А. Кадникова, А. Л. Чухрова, Т. В. Маркова, and О. П. Рыжкова. "Rare autosomal recessive spastic paraplegias." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 11() (November 29, 2019): 26–35. http://dx.doi.org/10.25557/2073-7998.2019.11.26-35.

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Актуальность. Наследственные спастические параплегии (НСП) - одна из наиболее гетерогенных групп наследственных нервных болезней, насчитывающая около 80 клинико-генетических форм (SPG) с хронологической нумерацией. Методы высокопроизводительного экзомного секвенирования (MPS) принципиально расширили возможности выделения новых SPG и практической ДНК-диагностики. В ФГБНУ МГНЦ проводится первое в России комплексное клинико-молекулярное исследование НСП на основе MPS и ряда дополнительных методов ДНК-анализа. Группа верифицированных случаев насчитывает 114 семей с 20 различными формами, включая редкие аутосомно-рецессивные (АР) формы, мало известные генетикам и неврологам. Цель: представить первые российские наблюдения редких АР форм: SPG5, SPG26, SPG35 и SPG39, связанных соответственно с генами CYP7B1, B4GALNT1, FA2H и PNPLA6, участвующими в разных звеньях липидного обмена. Методы. Первичная группа включала около 200 российских семей с предварительным клиническим диагнозом НСП или сходных болезней; основная группа: 114 семей с диагностированной формой SPG; материал статьи: 4 семьи. Использованы методы: клинико-генеалогический, кастомная MPS-панель «параплегии» (64 гена); секвенирование по Сэнгеру; мультиплексная-лигаза зависимая амплификация MLPA (выборочно); полноэкзомное секвенирование WES (выборочно); биоинформатический анализ. Результаты: подгруппа АР SPG включила 22 семьи/12 форм. Представленные 4 формы выявлены в единичных семьях. SPG5: подросток 17 лет в русской семье; начало в 15 лет, умеренный спастический парапарез, легкая сопутствующая атаксия. Генотип CYP7B1: ранее описанные мутации с.334С>T (p.Arg112Ter)/c.1190C>T (p.Pro397Leu) у больного и здоровой сестры 8 лет (доклиническая стадия), родители - гетерозиготные носители. SPG26: мальчик 13 лет в неинбредной русской семье; начало в раннем детстве, медленно прогрессирующий спастический парапарез, дизартрия, когнитивные и поведенческие нарушения, нормальная МРТ. Генотип B4GALNT1: новая мутация c.1514G>C (p.Arg505Pro) в гомозиготном состоянии у больного, в гетерозиготном - у родителей. Случай SPG26 - 14-й описанный в мире, гомозиготность по мутации, вызывающей очень редкую форму SPG, в неинбредной русской семье необычна. SPG35: мальчик 5 лет в этнически смешанной семье (мать русская, отец татарско-бурятского происхождения) из Сибири; начало в 4 года, быстро прогрессирующий спастический парапарез без других симптомов, нормальная МРТ. Генотип FA2H: ранее описанная мутация с.805С>T (p.Arg269Cys) и новая мутация c.106C>T (p.Leu36Phe). SPG39: мальчик 10 лет в русско-татарской семье; начало в 5 лет, умеренный спастический парапарез без других симптомов. Генотип PNPLA6: описанная ранее интронная мутация с.199-2A>T / новая мутация c.2033G>A (p.Gly678Asp), родители - гетерозиготные носители. Выводы. НСП у российских больных представлены широким спектром клинико-генетических форм, включая редкие АР SPG в неинбредных русских и в этнически смешанных семьях. Cлучаи SPG5, SPG26, SPG35 и SPG39 - первые российские описания. Из найденных в 4 генах 7 мутаций три ранее не описаны. MPS - метод выбора ДНК-диагностики болезней с выраженной генетической гетерогенностью, таких, как НСП. Objective: hereditary spastic paraplegias (HSP) are a heterogeneous group including about 80 forms: SPGs (Spastic Paraplegia Gene) numbered chronologically. Massive parallel sequencing MPS greatly improved possibilities of new SPGs disclosure and of practical DNA diagnostics. First Russian HSP complex investigation of HSP using MPS is being performed in FSBI PCMG. By now, the group of genetically diagnosed cases numbers 114 families with 20 different SPGs, including rare autosomal recessive forms poorly known to geneticists and neurologists. Aim: to present first Russian cases of rare autosomal recessive (AR) forms: SPG5, SPG26, SPG35, and SPG39. The genes, CYP7B1, B4GALNT1, FA2H, and FA2H correspondingly, are involved in lipid metabolism. Materials: initial group: about 200 Russian families with preliminary clinical diagnosis of HSP or alike disorders; index group: 114 SPG-confirmed families; paper material: the four families. Methods: clinical investigation, genealogical analysis; molecular methods: custom MPS-panel “paraplegias” (63 genes), Sanger sequencing, multiplex ligation-dependent probe amplification MLPA (selectively), whole-exome sequencing WES (selectively); bioinformatic analysis. Results. Subgroup of AR SPG included 22 families/12 forms. SPG5, 26, 35, 39 were detected in single families. SPG5: a 17-year-old youth in a Russian family; onset in 15 years, moderate spastic paraparesis, mild ataxia; CYP7B1 genotype: two earlier reported mutations .334С>T (p.Arg112Ter) и c.1190C>T (p.Pro397Leu) in the patient and in unaffected younger sister (preclinical stage), parents - heterozygous carries. SPG26: a 13-year old boy in a Russian non-consanguineous family; early-childhood onset, slowly progressing paraparesis, dysarthria, cognitive and behavioral impairment; B4GALNT1 genotype: novel homozygous mutation c.1514G>C (p.Arg505Pro) in the boy, heterozygosity in parents; homozygosity for a very rare gene (14th SPG26 world case) in a Russian non-consanguineous family is unusual. SPG35: a 5-year-old boy in a Sibirian ethnically mixed family (Russian mother, father of Tatar-Buryat ethnicity); onset in 4 years, rapidly progressing paraparesis with no other signs, normal MRI; FA2H genotype: reported earlier с.805С>T (p.Arg269Cys) / novel c.106C>T (p.Leu36Phe). SPG39: a 10-year-old boy in a Russian-Tatar family; onset in 5 years, slowly progressing paraparesis with no other signs; PNPLA6 genotype: reported earlier intronic с.199-2A>T novel c.2033G>A (p.Gly678Asp), parents - heterozygous carriers. Conclusions. HSP in Russian patients present a wide spectrum including rare AR SPG in non-consanguineous Russian families and in families of mixed ethnicity. Our SPG5, SPG26, SPG35 and SPG39 cases are first in Russia; of 7 mutations detected in the 4 genes 3 mutations were novel. MPS is method of choice in DNA diagnostics of heterogeneous disorders like HSP.

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COLE, DAVID E. C., and GARY A. QUAMME. "Inherited Disorders of Renal Magnesium Handling." Journal of the American Society of Nephrology 11, no. 10 (October 2000): 1937–47. http://dx.doi.org/10.1681/asn.v11101937.

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Abstract. The genetic basis and cellular defects of a number of primary magnesium wasting diseases have been elucidated over the past decade. This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport. The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease segregating with chromosome 9q12-22.2; (2) autosomal-dominant hypomagnesemia caused by isolated renal magnesium wasting, mapped to chromosome 11q23; (3) hypomagnesemia with hypercalciuria and nephrocalcinosis, a recessive condition caused by a mutation of the claudin 16 gene (3q27) coding for a tight junctional protein that regulates paracellular Mg2+ transport in the loop of Henle; (4) autosomal-dominant hypoparathyroidism, a variably hypomagnesemic disorder caused by inactivating mutations of the extracellular Ca2+/Mg2+-sensing receptor, Casr gene, at 3q13.3-21 (a significant association between common polymorphisms of the Casr and extracellular Mg2+ concentration has been demonstrated in a healthy adult population); and (5) Gitelman syndrome, a recessive form of hypomagnesemia caused by mutations in the distal tubular NaCl cotransporter gene, SLC12A3, at 16q13. The basis for renal magnesium wasting in this disease is not known. These inherited conditions affect different nephron segments and different cell types and lead to variable but increasingly distinguishable phenotypic presentations. No doubt, there are in the general population other disorders that have not yet been identified or characterized. The continued use of molecular techniques to probe the constitutive and congenital disturbances of magnesium metabolism will increase the understanding of cellular magnesium transport and provide new insights into the way these diseases are diagnosed and managed.

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Apps, Stacey A., Wayne A. Rankin, and Andrew P. Kurmis. "Connexin 26 mutations in autosomal recessive deafness disorders: A review." International Journal of Audiology 46, no. 2 (January 2007): 75–81. http://dx.doi.org/10.1080/14992020600582190.

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Ellard, Sian, Emma Kivuva, Peter Turnpenny, Karen Stals, Matthew Johnson, Weijia Xie, Richard Caswell, and Hana Lango Allen. "An exome sequencing strategy to diagnose lethal autosomal recessive disorders." European Journal of Human Genetics 23, no. 3 (June 25, 2014): 401–4. http://dx.doi.org/10.1038/ejhg.2014.120.

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Ревазян, К. З., А. Н. Мешков, А. И. Ершова, А. М. Глечян, О. В. Сивакова, Н. А. Войнова, А. К. Волков, and О. М. Драпкина. "Sociological aspects of genetic carrier screening for autosomal recessive disorders." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 10(219) (October 30, 2020): 86–88. http://dx.doi.org/10.25557/2073-7998.2020.10.86-88.

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Генетический скрининг на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний является важным звеном профилактики наследственных заболеваний на этапе планирования семьи. Пациентам поликлиники НОМТЦ МГТУ им. Н.Э. Баумана в возрасте 18-49 лет (женщины) и от 18 лет (мужчины) было предложено ознакомиться с брошюрой о генетическом скрининге на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний и заполнить анонимный опросник для выявления отношения к скринингу. Анкетирование продемонстрировало положительное отношение участников к проведению генетического скрининга, так как 73% опрошенных изъявили желание пройти скрининг, но у 46% были опасения касательно его возможных негативных последствий. При дальнейшем внедрении генетического скрининга на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний, в систему здравоохранения важно организовать просветительскую работу, информирующую население о роли скрининга и для устранения нежелательных последствий. Genetic carrier screening for autosomal-recessive disorders is an important part of hereditary diseases prevention at the stage of family planning. Patients of the Bauman clinic (18-49 years old women and men older 18 years) were asked to read a brochure about carrier screening for autosomal-recessive disorders and fill out an anonymous questionnaire to identify their attitudes towards screening. The questionnaire showed a positive attitude of the participants towards genetic screening, as 73% of respondents expressed a desire to undergo screening, but 46% had concerns about its possible negative consequences. With the further implementation of carrier screening by the healthcare system, it is important to organize educational work that will inform the population about the role of screening and for eliminating undesirable consequences.

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Aiello, Lisa B., and Beth Desaretz Chiatti. "Primer in Genetics and Genomics, Article 4—Inheritance Patterns." Biological Research For Nursing 19, no. 4 (May 22, 2017): 465–72. http://dx.doi.org/10.1177/1099800417708616.

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Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family.

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Zlotogora, J., S. Shalev, H. Habiballah, and S. Barjes. "Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village." American Journal of Medical Genetics 92, no. 5 (2000): 343–45. http://dx.doi.org/10.1002/1096-8628(20000619)92:5<343::aid-ajmg9>3.0.co;2-i.

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Huang, Franklin W., Isabel Rubio-Aliaga, James P. Kushner, Nancy C. Andrews, and Mark D. Fleming. "Identification of a novel mutation (C321X) in HJV." Blood 104, no. 7 (October 1, 2004): 2176–77. http://dx.doi.org/10.1182/blood-2004-01-0400.

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Abstract Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders. (Blood. 2004;104:2176-2177)

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Garcia-Berlanga, Jesus Eduardo, Mariana Moscovich, Isaac Jair Palacios, Alejandro Banegas-Lagos, Augusto Rojas-Martinez, and Daniel Martinez-Ramirez. "CAPN1 Variants as Cause of Hereditary Spastic Paraplegia Type 76." Case Reports in Neurological Medicine 2019 (July 1, 2019): 1–5. http://dx.doi.org/10.1155/2019/7615605.

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Background. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms. SPG11 gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of CAPN1 in an Argentinean subject. Case Presentation. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in CAPN1. Conclusions. Clinicians should screen for CAPN1 mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.

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Lahiry, P., J. F. Robinson, V. Siu, E. G. Puffenberger, K. A. Strauss, R. A. Hegele, and C. A. Rupar. "Genetic characterization of two autosomal recessive disorders, Majewski-like and cerebral atrophy syndromes." Clinical & Investigative Medicine 30, no. 4 (August 1, 2007): 85. http://dx.doi.org/10.25011/cim.v30i4.2860.

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Introduction: We recently identified two lethal recessive disorders segregating within the same Old Order Amish pedigree. The first disorder, Majewski-like syndrome (MLS), has features that overlap with both Majewski short rib-polydactyly syndrome and hydrolethalus syndrome. MLS is a lethal multi-system disorder that affects the development of the brain, adrenal glands, pituitary gland and bone. The second disorder, cerebral atrophy syndrome (CAS), is characterized by progressive and global loss of brain tissue. Affected children present early in life with microcephaly, seizures, and psychomotor retardation, and possess distinctive MRI findings. The objective of this study was to identify the genetic bases of these disorders to provide prompt and reliable diagnosis for families. Methods: Assuming recessive inheritance and mutation homogeneity (autozygosity), we used Affymetrix 10,000-single nucleotide polymorphism (10K-SNP) to genotype all affected individuals and identify candidate regions. SNP data were analyzed using Agilent GT autozygosity mapping software. LOD scores were used to identify candidate regions, and genes within these regions were prioritized for sequencing. Results and Conclusion: Because the Ontario Anabaptist population is relatively small, genetically isolated, and historically young, we were able to robustly map candidate regions using relatively low marker density and only a few affected individuals. Our preliminary data is consistent with the clinical observation that MLS and CAS segregate independently, as recessive conditions, within the pedigree. Thus far, we have sequenced 12 genes within the MLS locus, all of which were normal. For CAS, autozygosity mapping yielded two loci with comparable linkage scores, one of which contained no observable mutations. Once the causative mutations have been identified for MLS and CAS, we intend to study their population frequencies and also to pursue in vitro studies of gene and protein functions.

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J. M., Jeetendra Kumar, Mamatha T. R., Divya Sharma K. R., and Gowtham S. Gowda. "Rare cause of pathological fracture in adults as hypophosphatemic rickets." International Journal of Advances in Medicine 6, no. 5 (September 23, 2019): 1681. http://dx.doi.org/10.18203/2349-3933.ijam20194242.

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Hypophosphatemic rickets is a disorder of defective bone minerlization due to defect in renal phosphate handling process. It is characterised by increased phosphate excretion accompanied by increased phosphatonins like fibroblast growth factor 23. It can be hereditary form of X linked, autosomal dominant, autosomal recessive type of hypophosphatemic rickets. It is associated with low serum phosphorus, normal serum calcium, inappropriately low to normal vitamin D level. Correct identification of these disorders is important for determining therapy. Early diagnosis and management prevent subsequent complication of the disease.

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Kabzinska, D., I. Hausmanowa-Petrusewicz, and A. Kochanski. "Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance." Clinical Neuropathology 27, no. 01 (January 1, 2008): 1–12. http://dx.doi.org/10.5414/npp27001.

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Cutts, Anthony, Dimitrios V. Vavoulis, Mary Petrou, Frances Smith, Barnaby Clark, Shirley Henderson, and Anna Schuh. "A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders." Blood 134, no. 14 (August 23, 2019): 1190–93. http://dx.doi.org/10.1182/blood.2019002099.

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Abstract Using sickle cell disease as a model, Cutts et al describe a highly sensitive method for prenatal diagnosis of known single-gene defects using next-generation sequencing of maternal plasma cell-free DNA.

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Tan, Jing, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, and Thomas Klopstock. "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases." EBioMedicine 54 (April 2020): 102730. http://dx.doi.org/10.1016/j.ebiom.2020.102730.

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Naz, Arshi, Humayun Patel, Shariq Ahmed, Tariq Masood, Tehmina Nafees, Younus Jamal, Munira Borhany, et al. "Establishment of diagnostic facilities for autosomal recessive bleeding disorders in Pakistan." Blood Advances 2, Supplement_1 (November 30, 2018): 35–38. http://dx.doi.org/10.1182/bloodadvances.2018gs110924.

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Teive, Hélio A. G., Carlos H. F. Camargo, and Renato P. Munhoz. "Autosomal‐Recessive Cerebellar Ataxias and Movement Disorders With Elevated Alpha‐Fetoprotein." Movement Disorders 36, no. 3 (March 2021): 789. http://dx.doi.org/10.1002/mds.28520.

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Nicolas-Jilwan, Manal. "Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene." Neuroradiology Journal 32, no. 2 (January 7, 2019): 143–47. http://dx.doi.org/10.1177/1971400918822153.

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Recessive congenital methemoglobinemia type II is a very rare autosomal recessive hematologic disorder due to NADH-cytochrome b5 reductase deficiency, usually caused by full-stop mutations or deletions. This disease classically presents with mild neonatal cyanosis, early onset severe progressive developmental delay, movement disorders, and progressive microcephaly. We report two siblings with recessive congenital methemoglobinemia type II whose evaluation revealed a novel p.Arg92Trp missense mutation of the CYB5R3 gene and a peculiar imaging finding of basal ganglia hypoplasia. Brain magnetic resonance imaging was performed at age 10 months in the older sibling and at age three months in the younger sibling. It revealed similar findings of bilateral small size of the lentiform and caudate nuclei and reduced frontotemporal brain volume. Our patient cases highlight that basal ganglia hypoplasia is an interesting clue to the very rare and frequently unsuspected diagnosis of recessive congenital methemoglobinemia type II, that may explain the associated movement disorders. The novel missense mutation is one of very few identified missense mutations known to cause severe type II recessive congenital methemoglobinemia.

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Picher-Martel, Vincent, and Nicolas Dupre. "Current and Promising Therapies in Autosomal Recessive Ataxias." CNS & Neurological Disorders - Drug Targets 17, no. 3 (June 19, 2018): 161–71. http://dx.doi.org/10.2174/1871527317666180419115029.

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Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of the Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described. The genetic mutations mostly result in the accumulation of toxic metabolites which causes Purkinje neuron lost and eventual cerebellar dysfunction. Unfortunately, the recessive ataxias remain a poorly known group of diseases and most of them are yet untreatable. Conclusion: The aim of this review is to provide a comprehensive clinical profile and to review the currently available therapies. We overview the physiopathology, neurological features and diagnostic approach of the common recessive ataxias. The emphasis is also made on potential drugs currently or soon-to-be in clinical trials. For instance, promising gene therapies raise the possibility of treating differently Friedreich's ataxia, Ataxia-telangiectasia, Wilson's disease and Niemann-Pick disease in the next few years.

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Nassif, Daniel, João Santos Pereira, Mariana Spitz, Cláudia Capitão, and Alessandra Faria. "Neurodegeneration with brain iron accumulation: A case report." Dementia & Neuropsychologia 10, no. 2 (June 2016): 160–64. http://dx.doi.org/10.1590/s1980-5764-2016dn1002014.

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ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

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Rakhmanov, Yeltay, Paolo Enrico Maltese, Stefano Paolacci, Carla Marinelli, Marco Castori, Tommaso Beccari, Munis Dundar, and Matteo Bertelli. "Genetic testing for Marfan-like disorders." EuroBiotech Journal 2, s1 (September 1, 2018): 38–41. http://dx.doi.org/10.2478/ebtj-2018-0033.

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Abstract Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic variant in a different disease gene. Marfan-like disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal dominant or autosomal recessive patterns of inheritance. The prevalence of most Mar-fan-like disorders is unknown. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

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Turner, Tychele N., Christopher Douville, Dewey Kim, Peter D. Stenson, David N. Cooper, Aravinda Chakravarti, and Rachel Karchin. "Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns." Human Molecular Genetics 24, no. 21 (August 5, 2015): 5995–6002. http://dx.doi.org/10.1093/hmg/ddv309.

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Beaudin, M., A. Matilla-Dueñas, B. Soong, J. Pedroso, OG Barsottini, H. Mitoma, S. Tsuji, et al. "A.04 The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s1 (June 2019): S9. http://dx.doi.org/10.1017/cjn.2019.86.

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Background: There is currently no accepted classification of recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus and develop a clinical and pathophysiological classification for recessive ataxias. Methods: The work of this task force was based on a scoping systematic review of the literature that identified recessive disorders characterized primarily by a cerebellar motor syndrome and cerebellar degeneration. The task force regrouped 12 international ataxia experts who decided on general orientation and specific issues. Results: We identified 59 disorders that are classified as primary recessive ataxias. For each of these disorders, we present geographical and ethnical specificities along with distinctive clinical and imagery features. The primary recessive ataxias were organized in a clinical and a pathophysiological classification, and we present a general clinical approach to the patient presenting with ataxia. We also identified a list of 48 complex multisystem disorders in which ataxia is a secondary feature. Conclusions: This classification is based on a scoping systematic review of the literature and results from a sconsensus among a panel of international experts. It promotes a unified understanding of recessive cerebellar disorders for clinicians and researchers.

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Carn, Gwenaelle, Daniel L. Koller, Munro Peacock, Siu L. Hui, Wayne E. Evans, P. Michael Conneally, C. Conrad Johnston, Tatiana Foroud, and Michael J. Econs. "Sibling Pair Linkage and Association Studies between Peak Bone Mineral Density and the Gene Locus for the Osteoclast-Specific Subunit (OC116) of the Vacuolar Proton Pump on Chromosome 11p12-13." Journal of Clinical Endocrinology & Metabolism 87, no. 8 (August 1, 2002): 3819–24. http://dx.doi.org/10.1210/jcem.87.8.8740.

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A major determinant of the risk of osteoporosis is peak bone mineral density (BMD), which has been shown to have substantial heritability. The genes for 3 BMD-related phenotypes (autosomal dominant high bone mass, autosomal recessive osteoporosis-pseudoglioma, and autosomal recessives osteopetrosis) are all in the chromosome 11q12-13 region. We reported linkage of peak BMD in a large sample of healthy premenopausal sister pairs to this same chromosomal region, suggesting that the genes underlying these 3 disorders may also play a role in determining peak BMD within the normal population. To test this hypothesis, we examined the gene responsible for 1 form of autosomal recessive osteopetrosis, TCIRG1, which encodes an osteoclast-specific subunit (OC116) of the vacuolar proton pump. We identified 3 variants in the sequence of TCIRG1, but only one, single nuclear polymorphism 906713, had sufficient heterozygosity for use in genetic analyses. Our findings were consistent with linkage to femoral neck BMD, but not to spine BMD, in a sample of 995 healthy premenopausal sister pairs. However, further analysis, using both population and family-based disequilibrium approaches, did not demonstrate any evidence of association between TCIRG1 and the spine or femoral neck BMD. Therefore, our linkage data suggest that the chromosomal region that contains OC116 harbors a gene that affects peak BMD, but our association results indicate that polymorphisms in the OC116 gene do not affect peak BMD.

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Carricondo, Pedro C., Thais Andrade, Lev Prasov, Bernadete M. Ayres, and Sayoko E. Moroi. "Nanophthalmos: A Review of the Clinical Spectrum and Genetics." Journal of Ophthalmology 2018 (2018): 1–9. http://dx.doi.org/10.1155/2018/2735465.

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Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e.,MFRP,TMEM98,PRSS56,BEST1, andCRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

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Koh, Kishin, Hiroyuki Ishiura, Shoji Tsuji, and Yoshihisa Takiyama. "JASPAC: Japan Spastic Paraplegia Research Consortium." Brain Sciences 8, no. 8 (August 13, 2018): 153. http://dx.doi.org/10.3390/brainsci8080153.

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Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10–100/1,000,000. With this background, the Japanese research group “Japan Spastic Paraplegia Research Consortium: JASPAC” was organized in 2006 to elucidate the molecular epidemiologies of HSPs in Japan and the molecular pathologies of HSPs. To date, the JASPAC has collected 714 HSP families and analyzed 488 index patients. We found 279 pathogenic variants or probable pathogenic variants of causative genes in the 488 HSP patients. According to our results, we found 178 families with autosomal dominant patients (65%), and 101 with autosomal recessive and sporadic patients (48%). We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients. On the other hand, we could not find causative genes in 35% of the autosomal dominant patients, or 52% of the autosomal recessive and sporadic patients. We are now trying to find new causative genes and elucidate the molecular mechanisms underlying HSPs.

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Rakhmanov, Yeltay, Paolo Enrico Maltese, Alice Bruson, Tommaso Beccari, and Matteo Bertelli. "Genetic testing for Hennekam syndrome." EuroBiotech Journal 2, s1 (September 1, 2018): 16–18. http://dx.doi.org/10.2478/ebtj-2018-0027.

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Abstract Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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Kraft, Scott, Sarah Furtado, Ranjit Ranawaya, Jillian Parboosingh, Stacey Bleoo, Karen McElligott, Peter Bridge, Sian Spacey, Shyamal Das, and Oksana Suchowersky. "Adult Onset Spinocerebellar Ataxia in a Canadian Movement Disorders Clinic." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 32, no. 4 (May 2005): 450–58. http://dx.doi.org/10.1017/s0317167100004431.

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ABSTRACT:Background:The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations.Objectives:1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population.Methods:A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed.Results:A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative.Conclusion:A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.

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Ballabio, E., A. Bersano, N. Bresolin, and L. Candelise. "Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach." Journal of Cerebral Blood Flow & Metabolism 27, no. 10 (June 20, 2007): 1649–62. http://dx.doi.org/10.1038/sj.jcbfm.9600520.

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The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopathy with retinopathy, nephropathy, and stroke, Fabry disease, pseudoxanthoma elasticum, Neurofibromatosis type 1, familial MoyaMoya disease, Ehlers-Danlos syndrome type IV, Marfan syndrome. For each monogenic disorder, mode of inheritance, pathophysiological aspects, clinical phenotype, and diagnostic tools are carefully described. Furthermore, the classification of monogenetic disorders is presented according to stroke mechanisms, which include small vessel diseases, large artery diseases, and arterial dissections. This review could be useful to identify specific diagnostic pathways for patients with a suspicion of monogenic disease.

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Man, W. Y. N., F. W. Nicholas, and J. W. James. "A pedigree-analysis approach to the descriptive epidemiology of autosomal-recessive disorders." Preventive Veterinary Medicine 78, no. 3-4 (March 2007): 262–73. http://dx.doi.org/10.1016/j.prevetmed.2006.10.010.

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Journal articles on the topic 'Autosomal recessive disorders'

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