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Author: Grafiati

Published: 14 March 2023

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1

Behne, Robert, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt, et al. "Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking." Human Molecular Genetics 29, no. 2 (January 9, 2020): 320–34. http://dx.doi.org/10.1093/hmg/ddz310.

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Abstract Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-4 subunits on intracellular protein trafficking using patient-derived cells. We investigated 15 patient-derived fibroblast lines and generated six lines of induced pluripotent stem cell (iPSC)-derived neurons covering a wide range of AP-4 variants. All patient-derived fibroblasts showed reduced levels of the AP4E1 subunit, a surrogate for levels of the AP-4 complex. The autophagy protein ATG9A accumulated in the trans-Golgi network and was depleted from peripheral compartments. Western blot analysis demonstrated a 3–5-fold increase in ATG9A expression in patient lines. ATG9A was redistributed upon re-expression of AP4B1 arguing that mistrafficking of ATG9A is AP-4-dependent. Examining the downstream effects of ATG9A mislocalization, we found that autophagic flux was intact in patient-derived fibroblasts both under nutrient-rich conditions and when autophagy is stimulated. Mitochondrial metabolism and intracellular iron content remained unchanged. In iPSC-derived cortical neurons from patients with AP4B1-associated SPG47, AP-4 subunit levels were reduced while ATG9A accumulated in the trans-Golgi network. Levels of the autophagy marker LC3-II were reduced, suggesting a neuron-specific alteration in autophagosome turnover. Neurite outgrowth and branching were reduced in AP-4-HSP neurons pointing to a role of AP-4-mediated protein trafficking in neuronal development. Collectively, our results establish ATG9A mislocalization as a key marker of AP-4 deficiency in patient-derived cells, including the first human neuron model of AP-4-HSP, which will aid diagnostic and therapeutic studies.

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2

Tessa, A., R. Battini, A. Rubegni, E. Storti, C. Marini, D. Galatolo, R. Pasquariello, and F. M. Santorelli. "Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families." European Journal of Neurology 23, no. 10 (July 22, 2016): 1580–87. http://dx.doi.org/10.1111/ene.13085.

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3

Perić, Stojan, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, et al. "Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia." Cells 11, no. 18 (September 8, 2022): 2804. http://dx.doi.org/10.3390/cells11182804.

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Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosomal recessive inheritance, and 15.7% of sporadic cases. Twelve families had mutations in the SPAST gene, usually with a pure HSP phenotype. Three sporadic patients had conclusive findings in the SPG11 gene. Two unrelated patients carried a homozygous pathogenic mutation c.233T>A (p.L78*) in SPG7 that is a founder Roma mutation. One patient had a heterozygous de novo variant in the KIF5A gene, and one had a compound heterozygous mutation in the ZYFVE26 gene. The combined genetic yield of our gene panel and CNV analysis for HSP was around 30%. Our findings broaden the knowledge on the genetic epidemiology of HSP, with implications for molecular diagnostics in this region.

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4

Пухликов, Александр Валентинович, and Aleksandr Valentinovich Pukhlikov. "Бирациональная геометрия многомерных многообразий Фано." Sovremennye Problemy Matematiki 19 (2014): 7–173. http://dx.doi.org/10.4213/spm52.

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5

Ziegler, Marvin, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, and Darius Ebrahimi-Fakhari. "Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7." Neurology Genetics 7, no. 1 (December 29, 2020): e544. http://dx.doi.org/10.1212/nxg.0000000000000544.

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ObjectiveUniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed.MethodsA combination of clinical, molecular, and imaging data and functional studies in patient-derived fibroblasts.ResultsWe report a 4-year-old female with a blended, complex phenotype of Silver-Russell syndrome (SRS) and hereditary spastic paraplegia type 50 (SPG50) caused by total maternal isodisomy of chromosome 7 (UPiD(7)mat) and a loss-of-function variant in AP4M1 (NM_00472.3: c.59-1G>C, IVS1-1G>C). Functional studies in patient-derived fibroblasts confirmed the loss of adaptor protein complex 4 function. Distinctive facial features, intrauterine growth restriction, short stature, feeding difficulties, and severe gastroesophageal reflux were consistent with SRS. Features associated with SPG50 included early-onset epilepsy, episodes of stereotypical laughter, and thinning of the corpus callosum and ventriculomegaly on brain MRI. Symptoms shared by both syndromes such as developmental delay, short stature, and axial and appendicular hypotonia were also present. Notably, other common manifestations of SPG50 such as microcephaly or spasticity had not developed yet.ConclusionsThis case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity.

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6

Hand, Collette Kathleen, Geneviève Bernard, Marie-Pierre Dubé, Michael Israel Shevell, and Guy Armand Rouleau. "A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39, no. 2 (March 2012): 220–24. http://dx.doi.org/10.1017/s0317167100013263.

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Objectives:To characterize at clinical and molecular levels a family presenting with X-linked recessive Hereditary Spastic Paraplegia (HSP).Background:HSPs are a large group of genetically heterogeneous neurodegenerative disorders characterized by progressive upper motor neuron signs. Mutations in the proteolipid protein (PLP1) gene have been identified in families linked to the SPG2 locus on chromosome Xq22. However, Pelizaeus-Merzbacher disease (PMD) is also an X-linked recessive neurological disorder caused by PLP1 mutations.Methods:The SPG2 locus was investigated by linkage analysis in the family. The PLP1 gene was screened by sequencing. We present findings in a large French-Canadian family with an X-linked recessive HSP. The proband presented early with developmental delay and developed progressive spastic paraplegia. He has been wheelchair-bound since the age of three years. At the latest follow-up, he was 20 years-old and had severe spasticity predominantly affecting the lower extremities, moderate cerebellar dysfunction, and optic atrophy.Results:Linkage to SPG2 was established and a G to A mutation (M1R) in the initiation codon of the PLP1 gene was identified, likely resulting in the complete absence of proteolipid protein.Conclusion:We report a new PLP1 gene mutation in a patient with a clinical phenotype consistent with a PLP1 null syndrome.

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7

Lay, Patrick Chase, and Gayle Woodson. "SP352 – Balloon-assisted removal of obstructing bronchial granuloma." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P202. http://dx.doi.org/10.1016/j.otohns.2009.06.648.

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Almasoudi, Wejdan, Christer Nilsson, Ulrika Kjellström, Kevin Sandeman, and Andreas Puschmann. "Co-occurrence of CLCN2-related leukoencephalopathy and SPG56." Clinical Parkinsonism & Related Disorders 8 (2023): 100189. http://dx.doi.org/10.1016/j.prdoa.2023.100189.

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Mignarri, Andrea, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico, and Maria Teresa Dotti. "Treatment of SPG5 with cholesterol-lowering drugs." Journal of Neurology 262, no. 12 (November 14, 2015): 2783–85. http://dx.doi.org/10.1007/s00415-015-7971-5.

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Hanna, John, David Waterman, Monica Boselli, and Daniel Finley. "Spg5 Protein Regulates the Proteasome in Quiescence." Journal of Biological Chemistry 287, no. 41 (August 17, 2012): 34400–34409. http://dx.doi.org/10.1074/jbc.m112.390294.

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Black, Angela. "SP152 – Bioluminescent bacteria and its emerging role in otolaryngology." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P135. http://dx.doi.org/10.1016/j.otohns.2009.06.426.

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Taylor, Kevin, Rahul K. Shah, and Sukgi Choi. "SP252 – Demographics of an inner-city pediatric voice clinic." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P170—P171. http://dx.doi.org/10.1016/j.otohns.2009.06.542.

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Criscuolo, C., R. Carbone, M. Lieto, S. Peluso, A. Guacci, A. Filla, M. Quarantelli, R. Lanzillo, V. Brescia Morra, and G. De Michele. "SPG5 and multiple sclerosis: clinical and genetic overlap?" Acta Neurologica Scandinavica 133, no. 6 (September 15, 2015): 410–14. http://dx.doi.org/10.1111/ane.12476.

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14

Ciccolella, Marianna, Filippo M. Santorelli, Roberta Biancheri, and Andrea Rossi. "SPG5-related spastic paraplegia and white matter abnormalities." Neuromuscular Disorders 19, no. 7 (July 2009): 507–8. http://dx.doi.org/10.1016/j.nmd.2009.05.002.

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Gonzalez, Michael, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, et al. "Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)." European Journal of Human Genetics 21, no. 11 (March 13, 2013): 1214–18. http://dx.doi.org/10.1038/ejhg.2013.29.

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Almasoudi, W., A. Puschmann, and C. Nilsson. "Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family." Parkinsonism & Related Disorders 79 (October 2020): e112. http://dx.doi.org/10.1016/j.parkreldis.2020.06.408.

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17

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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Wallwitz, Jacqueline, Gabriela Berg, Emilio Casanova, Dagmar Stoiber, and Anton Bauer. "SP152NOVEL ELISA FOR THE MEASUREMENT OF INCREASED ENDOSTATIN IN MICE WITH GLOMERULONEPHRITIS." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii155. http://dx.doi.org/10.1093/ndt/gfx141.sp152.

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Kocak, Sibel, Arzu Ozdemir Kayalar, Fatih Akbay, Aysegul Kudu, Gunden Deger, Murvet Yılmaz, Kamile Gulcin Eken, and Suheyla Apaydin. "SP252LEPTOSPIROSIS WITH ACUTE RENAL FAILURE AND VASCULITIS WITH PERIPHERAL GANGRENE OF THE LOWER EXTREMITIES: A CASE REPORT." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii190. http://dx.doi.org/10.1093/ndt/gfx144.sp252.

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Kalaska, Bartlomiej, Krystyna Pawlak, Ewa Oksztulska-Kolanek, Tomasz Domaniewski, Beata Znorko, Malgorzata Karbowska, Aleksandra Citkowska, Piotr Jakubowski, and Dariusz Pawlak. "SP352ASSOCIATION BETWEEN CENTRAL KYNURENINE METABOLISM AND BONE STRENGHT IN RATS WITH CHRONIC KIDNEY DISEASE." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii228—iii227. http://dx.doi.org/10.1093/ndt/gfx147.sp352.

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Rais, Lamia, Mouhaned Hassen, Amina Gargouri, Hela Jbali, rania Khedher, Wided Smaoui, Madiha Krid, et al. "SP452PERIPHERAL DIABETIC NEUROPATHY IN PATIENTS ON CHRONIC HEMODIALYSIS." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii275. http://dx.doi.org/10.1093/ndt/gfx149.sp452.

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Xu, Tao, Bin Peng, and Niansong Wang. "SP552EFFECTS OF HEMODIALYSIS COMBINED WITH HEMODIAFILTRATION AND CALCIUM SUPPLEMENTS ON CARDIAC STRUCTURE & FUNCTION IN MAINTENANCE HEMODIALYSIS PATIENTS WITH DIABETIC NEPHROPATHY." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii318—iii319. http://dx.doi.org/10.1093/ndt/gfx152.sp552.

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Rhee, Connie, Amy You, Elani Streja, Rajnish Mehrotra, Matthew Rivara, Yoshitsugu Obi, Csaba Kovesdy, and Kamyar Kalantar-Zadeh. "SP652DIALYSIS SCHEDULE AND DAY-OF-WEEK MORTALITY IN A NATIONAL DIALYSIS COHORT." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii355—iii357. http://dx.doi.org/10.1093/ndt/gfx154.sp652.

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Leone, Francesca, Paolo Gigliotti, Antonella La Russa, Martina Bonofiglio, Danilo Lofaro, Anna Perri, Donatella Vizza, et al. "SP752CARD8 POLYMORPHISM PREDICT URINARY TRACT INFECTION ONSET AFTER RENAL TRANSPLANTATION." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii396. http://dx.doi.org/10.1093/ndt/gfx157.sp752.

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Dmitrieva, Margarita, Tatiana Letkovskaya, and Kirill Komissarov. "SP052CLINICAL FORMS OF GLOMERULONEPHRITIS WITH EXTRACAPILLARY PROLIFERATION." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i363. http://dx.doi.org/10.1093/ndt/gfy104.sp052.

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Bharati, Joyita, Krishan Gupta, Rajha Ramachandran, Manish Rathi, Aman Sharma, and Ritambhra Nada. "SP152COMPARISON OF TWO STEROID REGIMENS IN INDUCTION THERAPY OF PROLIFERATIVE LUPUS NEPHRITIS: A RANDOMISED CONTROLLED TRIAL." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i395. http://dx.doi.org/10.1093/ndt/gfy104.sp152.

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Allen, Jennifer, David Gardner, Daniel Harvey, Andrew Sharman, Shraddha Kamath, Paula Dhiman, and Mark Devonald. "SP252URINARY CADMIUM AND COPPER AS BIOMARKERS OF ACUTE KIDNEY INJURY AFTER INTENSIVE CARE UNIT ADMISSION." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i428—i429. http://dx.doi.org/10.1093/ndt/gfy104.sp252.

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Sola, Laura, Susana Gonzalez, Juan Diaz, Federico Yandian, Maria Leyun, Manuela Bello, Karina Parodi, Ricardo Hermo, and Walter Alallon. "SP352ENDOGENOUS ERYTHROPOIETIN AND ITS RELATIONSHIP WITH IRON DEFICIENCY." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i464. http://dx.doi.org/10.1093/ndt/gfy104.sp352.

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Sileno, Giuseppe, Alice Guerini, Massimo Torreggiani, Marco Colucci, Grazia Bonelli, Davide Catucci, Vittoria Esposito, Alice Mariotto, and Ciro Esposito. "SP552RISKS AND BENEFITS OF ORAL ANTICOAGULATION THERAPY IN HEMODIALYSIS PATIENTS." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i534. http://dx.doi.org/10.1093/ndt/gfy104.sp552.

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Trbojevic-Stankovic, Jasna, Edvin Hadžibulić, Branislav Andrić, Zoran Marjanović, Fatmir Birđozlić, and Snežana Pešić. "SP652IS THERE A RELATIONSHIP BETWEEN MALNUTRITION-INFLAMMATION STATUS AND ANXIETY IN MAINTENANCE HEMODIALYSIS PATIENTS?" Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i566. http://dx.doi.org/10.1093/ndt/gfy104.sp652.

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31

Park, Woo Yeong, Ha Yeon Park, Sang Mok Yeo, Seong Sik Kang, Sung Bae Park, Jeongsoo Yoon, Kyubok Jin, and Seungyeup Han. "SP752IMPACT OF TACROLIMUS TROUGH LEVEL IN KIDNEY TRANSPLANT RECIPIENTS ON THE POST-TRANSPLANT CLINICAL OUTCOME." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i601—i603. http://dx.doi.org/10.1093/ndt/gfy104.sp752.

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32

Tagney, J., and J. C. Haines. "SP52 Evidence-Based Practice: Addressing Gaps in Clinical Nursing Knowledge." European Journal of Cardiovascular Nursing 8, no. 1_suppl (April 2009): S52. http://dx.doi.org/10.1016/s1474-5151(09)60163-8.

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33

Prestsæter, Sjur, Jeanette Koht, Foudil Lamari, Chantal M. E. Tallaksen, Stian Tobias Juel Hoven, Magnus Dehli Vigeland, Kaja Kristine Selmer, and Siri Lynne Rydning. "Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5." Journal of the Neurological Sciences 419 (December 2020): 117211. http://dx.doi.org/10.1016/j.jns.2020.117211.

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34

Zaidi, Syed Amir, Howard M. Saal, Alberto J. Espay, and Andrew P. Duker. "The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia." Journal of the Neurological Sciences 403 (August 2019): 114–16. http://dx.doi.org/10.1016/j.jns.2019.06.012.

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35

Leonardi, Luca, Lucia Ziccardi, Christian Marcotulli, Anna Rubegni, Antonino Longobardi, Mariano Serrao, Eugenia Storti, et al. "Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family." Journal of Neurology 263, no. 4 (February 25, 2016): 781–83. http://dx.doi.org/10.1007/s00415-016-8066-7.

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36

Yang, Yi-Jing, Zhi-Fan Zhou, Xin-Xin Liao, Ying-Ying Luo, Zi-Xiong Zhan, Mu-Fang Huang, Lu Zhou, Bei-Sha Tang, Lu Shen, and Juan Du. "SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China." Journal of Neurology 263, no. 10 (August 23, 2016): 2136–38. http://dx.doi.org/10.1007/s00415-016-8256-3.

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37

Shimazaki, Haruo, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, et al. "A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)." Journal of Medical Genetics 49, no. 12 (November 27, 2012): 777–84. http://dx.doi.org/10.1136/jmedgenet-2012-101212.

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38

El Matri, Khaled, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, and Leila El Matri. "Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography." Genes 12, no. 11 (November 15, 2021): 1795. http://dx.doi.org/10.3390/genes12111795.

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Abstract:

Purpose: We report the case of a neurologically asymptomatic young boy presenting with an unusual phenotype of CYP2U1 related macular dystrophy associating bilateral macular telangiectasia (MacTel) and fibrotic choroidal neovascularization (CNV), assessed with complete multimodal imaging including optical coherence tomography angiography (OCT-A). Case presentation: A twelve-year-old boy from a non-consanguineous family complained of bilateral progressive visual loss and photophobia. The best-corrected visual acuity was 2/10 on the right eye and 3/10 on the left eye. Fundus examination showed central pigmented fibrotic macular scar and yellowish punctuate deposits in both eyes. En face OCT-A detected typical macular telangiectasia (MacTel) in both eyes with dilated telangiectatic capillaries in the deep capillary plexus associated with vascular anomalies in the superficial and deep capillary plexus. Typical hypo-reflective cavities were observed within the inner foveal layers on structural OCT. En face OCT-A also confirmed the presence of bilateral inactive CNV within the fibrotic scars, showing high-flow vascular network at the level of the subretinal hyperreflective lesions. Whole exome sequencing identified a known homozygous pathogenic variant in CYP2U1 gene (c.1168C > T, p.Arg390*), which is a disease-causing mutation in autosomal recessive spastic paraplegia type 56 (SPG56). The neurological examination was normal, and electromyography and brain magnetic resonance imaging were unremarkable as well. Conclusion: Macular dystrophy can be the first manifestation in SPG56. A particular phenotype with MacTel was observed, and neovascular complications are possible. CYP2U1 should be included in the panels of genes tested for macular dystrophies, especially in the presence of MacTel and/or neurological manifestations.

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39

Biancheri, Roberta, Marianna Ciccolella, Andrea Rossi, Alessandra Tessa, Denise Cassandrini, Carlo Minetti, and Filippo M. Santorelli. "White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1." Neuromuscular Disorders 19, no. 1 (January 2009): 62–65. http://dx.doi.org/10.1016/j.nmd.2008.10.009.

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40

Minase, Gaku, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, et al. "An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination." Journal of Human Genetics 62, no. 11 (July 20, 2017): 997–1000. http://dx.doi.org/10.1038/jhg.2017.77.

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41

Orlacchio, A., T. Kawarai, E. Rogaeva, Y. Q. Song, A. D. Paterson, G. Bernardi, and P. H. St. George-Hyslop. "Clinical and genetic study of a large Italian family linked to SPG12 locus." Neurology 59, no. 9 (November 12, 2002): 1395–401. http://dx.doi.org/10.1212/01.wnl.0000031423.43482.19.

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42

Wilkinson, P. A., A. H. Crosby, C. Turner, H. Patel, N. W. Wood, A. H. Schapira, and T. T. Warner. "A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia." Neurology 61, no. 2 (July 21, 2003): 235–38. http://dx.doi.org/10.1212/01.wnl.0000069920.42968.8d.

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43

Masciullo, M., A. Tessa, S. Perazza, F. M. Santorelli, A. Perna, and G. Silvestri. "Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56." European Journal of Paediatric Neurology 20, no. 3 (May 2016): 444–48. http://dx.doi.org/10.1016/j.ejpn.2016.02.001.

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44

Stevanin, G., C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis, et al. "A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21." Neurology 68, no. 21 (May 21, 2007): 1837–40. http://dx.doi.org/10.1212/01.wnl.0000262043.53386.22.

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45

Bonneau, D., J. M. Rozet, C. Bulteau, M. Berthier, R. Mettey, R. Gil, A. Munnich, and M. Le Merrer. "X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus." Journal of Medical Genetics 30, no. 5 (May 1, 1993): 381–84. http://dx.doi.org/10.1136/jmg.30.5.381.

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46

Schüle, Rebecca, Teepu Siddique, Han-Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, Ricardo E. Madrid, Nailah Siddique, Ludger Schöls, and Ingemar Björkhem. "Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis." Journal of Lipid Research 51, no. 4 (October 7, 2009): 819–23. http://dx.doi.org/10.1194/jlr.m002543.

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47

Rubegni, Anna, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M. Santorelli, and Antonio Federico. "SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing." Journal of the Neurological Sciences 375 (April 2017): 198–202. http://dx.doi.org/10.1016/j.jns.2017.01.069.

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48

Cloake, Nancy, Jun Yan, Atefeh Aminian, Michael Pender, and Judith Greer. "PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations." Journal of Clinical Medicine 7, no. 10 (October 11, 2018): 342. http://dx.doi.org/10.3390/jcm7100342.

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PLP1 is located on the X-chromosome and encodes myelin proteolipid protein (PLP), the most abundant protein in central nervous system myelin. Generally, point mutations in PLP1 result in X-linked dysmyelinating disorders, such as Pelizaeus-Merzbacher disease (PMD) or spastic paraplegia type 2 (SPG2). However, several case studies have identified patients with missense point mutations in PLP1 and clinical symptoms and signs compatible with a diagnosis of multiple sclerosis (MS). To investigate if PLP1 mutations occur relatively frequently in MS, we sequenced the coding regions of PLP1 in 22 female MS patients who had developed disease after the age of 40 and in 42 healthy women, and identified a missense mutation in exon 2 of PLP1 resulting in a Leu30Val mutation in the protein in one of the MS patients. mCherry-tagged plasmids containing wild type or mutant PLP1 sequences of PLP, including two known PMD/SPG2-related mutations as positive controls, were constructed and transfected into Cos-7 cells. In comparison with cells transfected with wild type PLP1, all mutations caused significant accumulation of PLP in the endoplasmic reticulum of the cells and induction of the unfolded protein response—a mechanism that leads to apoptosis of cells expressing mutant proteins. Additionally, in silico analysis of the binding of peptides containing the Leu30Val mutation to the human leukocyte antigen (HLA) molecules carried by the patient harboring this mutation suggested that the mutation could produce several novel immunogenic epitopes in this patient. These results support the idea that mutations in myelin-related genes could contribute to the development of MS in a small proportion of patients.

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49

Meljon, Anna, Peter J. Crick, Eylan Yutuc, Joyce L. Yau, Jonathan R. Seckl, Spyridon Theofilopoulos, Ernest Arenas, Yuqin Wang, and William J. Griffiths. "Mining for Oxysterols in Cyp7b1−/− Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5." Biomolecules 9, no. 4 (April 13, 2019): 149. http://dx.doi.org/10.3390/biom9040149.

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Deficiency in cytochrome P450 (CYP) 7B1, also known as oxysterol 7α-hydroxylase, in humans leads to hereditary spastic paraplegia type 5 (SPG5) and in some cases in infants to liver disease. SPG5 is medically characterized by loss of motor neurons in the corticospinal tract. In an effort to gain a better understanding of the fundamental biochemistry of this disorder, we have extended our previous profiling of the oxysterol content of brain and plasma of Cyp7b1 knockout (-/-) mice to include, amongst other sterols, 25-hydroxylated cholesterol metabolites. Although brain cholesterol levels do not differ between wild-type (wt) and knockout mice, we find, using a charge-tagging methodology in combination with liquid chromatography–mass spectrometry (LC–MS) and multistage fragmentation (MSn), that there is a build-up of the CYP7B1 substrate 25-hydroxycholesterol (25-HC) in Cyp7b1-/- mouse brain and plasma. As reported earlier, levels of (25R)26-hydroxycholesterol (26-HC), 3β-hydroxycholest-5-en-(25R)26-oic acid and 24S,25-epoxycholesterol (24S,25-EC) are similarly elevated in brain and plasma. Side-chain oxysterols including 25-HC, 26-HC and 24S,25-EC are known to bind to INSIG (insulin-induced gene) and inhibit the processing of SREBP-2 (sterol regulatory element-binding protein-2) to its active form as a master regulator of cholesterol biosynthesis. We suggest the concentration of cholesterol in brain of the Cyp7b1-/- mouse is maintained by balancing reduced metabolism, as a consequence of a loss in CYP7B1, with reduced biosynthesis. The Cyp7b1-/- mouse does not show a motor defect; whether the defect in humans is a consequence of less efficient homeostasis of cholesterol in brain has yet to be uncovered.

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50

Rimm, D. "SP152 Beyond immunohistochemistry: Accurate, reproducible and quantitative measurement of protein analyte concentrations in fixed tissue." European Journal of Cancer Supplements 7, no. 4 (October 2009): 7. http://dx.doi.org/10.1016/s1359-6349(09)72129-9.

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