Articles de revues : « Hypomyelinating »

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Wolf, N. I. « Hypomyelinating leukoencephalopathies ». European Journal of Paediatric Neurology 12 (mai 2008) : S14. http://dx.doi.org/10.1016/s1090-3798(08)70046-1.

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Popovich, Sofia G., Lyudmila M. Kuzenkova, Olga B. Kondakova, Alexey I. Firumyants, Tatyana V. Podkletnova et Eugeniya V. Uvakina. « A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood ». L.O. Badalyan Neurological Journal 3, n^o 3 (30 septembre 2022) : 122–26. http://dx.doi.org/10.46563/2686-8997-2022-3-3-122-126.

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Leukodystrophies are a group of hereditary progressive diseases of the central nervous system characterized by selective lesions in white matter with specific involvement of glial cells. There are hypomyelinating (absence of myelin deposition), demyelinating (loss of previously deposited myelin), dysmyelinating (deposition of structurally or biochemically abnormal myelin), and myelinolytic leukodystrophies (myelin vacuolization). Hypomyelinating leukodystrophies (HL), like most leukodystrophies, debut in childhood or adolescence and are characterized by a progressive course of the disease. HL occurs as a result of impaired synthesis of proteins responsible for the development, structure, and integrity of the myelin sheath, involved in the processes of transcription and translation. In the latter group, the main role is assigned to HL associated with biallelic mutations in the genes of the RNA polymerase III transcription complex, POLR3: POLR3A, POLR3B, POLR1C, and POLR3K. The diagnosis can be confirmed by magnetic resonance imaging of the brain. POLR3A-associated HL is manifested by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. The magnetic resonance features of POLR3-associated HL include diffuse hypomyelination with relative preservation of the dentate nuclei, anterolateral nuclei of the thalamus, globus pallidus, pyramidal tracts at the level of the posterior part of the internal capsules, and the corona radiata. In some cases, thinning of the corpus callosum and atrophy of the cerebellum were also noted. The article presents a clinical case of a patient with POL3A-associated HL with spinal cord injury with the debut in early childhood.

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Conant, Alexander, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H. Evans et al. « Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis ». Journal of Child Neurology 33, n^o 10 (8 juin 2018) : 642–50. http://dx.doi.org/10.1177/0883073818776157.

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Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Whole exome sequencing identified biallelic mutations in the CNTNAP1 gene: homozygous c.1163G>C (p.Arg388Pro) and compound heterozygous c.967T>C (p.Cys323Arg) and c.319C>T (p.Arg107*). Sural nerve and quadriceps muscle biopsies demonstrated progressive, severe onion bulb and axonal pathology. By ultrastructural evaluation, septate axoglial paranodal junctions were absent from nodes of Ranvier. Serial brain magnetic resonance images revealed hypomyelination, progressive atrophy, and reduced diffusion in the globus pallidus in both patients. These 2 families illustrate severe progressive peripheral demyelinating neuropathy due to the absence of septate paranodal junctions and central hypomyelination with neurodegeneration in CNTNAP1-associated arthrogryposis multiplex congenita.

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Harati, Y., et I. J. Butler. « Congenital hypomyelinating neuropathy. » Journal of Neurology, Neurosurgery & ; Psychiatry 48, n^o 12 (1 décembre 1985) : 1269–76. http://dx.doi.org/10.1136/jnnp.48.12.1269.

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Gauquelin, L., FK Cayami, L. Sztriha, G. Yoon, LT Tran, K. Guerrero, F. Hocke et al. « P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants ». Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, s1 (juin 2019) : S34. http://dx.doi.org/10.1017/cjn.2019.175.

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Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.

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Vrij-van den Bos, Suzanne, Janna Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami et al. « 4H Leukodystrophy : A Brain Magnetic Resonance Imaging Scoring System ». Neuropediatrics 48, n^o 03 (1 mars 2017) : 152–60. http://dx.doi.org/10.1055/s-0037-1599141.

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4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0–54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls. Five independent raters completed the scoring system in 40 brain MRI scans collected from 36 patients with genetically proven 4H. Interrater reliability (IRR) and correlations between MRI scores, age, gross motor function, gender, and mutated gene were assessed. IRR for total MRI severity was found to be excellent (intraclass correlation coefficient: 0.87; 95% confidence interval: 0.80–0.92) but varied between different items with some (e.g., myelination of the cerebellar WM) showing poor IRR. Atrophy increased with age in contrast to hypomyelination scores. MRI scores (global, hypomyelination, and atrophy scores) significantly correlated with clinical handicap (p < 0.01 for all three items) and differed between the different genotypes. Our 4H MRI scoring system reliably quantifies hypomyelination and atrophy in patients with 4H, and MRI scores reflect clinical disease severity.

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Gauquelin, Laurence, Ferdy K. Cayami, László Sztriha, Grace Yoon, Luan T. Tran, Kether Guerrero, François Hocke et al. « Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants ». Neurology Genetics 5, n^o 6 (30 octobre 2019) : e369. http://dx.doi.org/10.1212/nxg.0000000000000369.

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ObjectiveTo determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.MethodsA cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C. Brain MRI studies were reviewed.ResultsFourteen female and 9 male patients aged 7 days to 23 years were included in the study. Most participants presented early in life (birth to 6 years), and motor deterioration was seen during childhood. A notable proportion of patients required a wheelchair before adolescence, suggesting a more severe phenotype than previously described in POLR3-HLD. Dental, ocular, and endocrine features were not invariably present (70%, 50%, and 50%, respectively). Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including 1 individual with clear Treacher Collins syndrome (TCS) features. Brain MRI revealed hypomyelination in all cases, often with areas of pronounced T2 hyperintensity corresponding to T1 hypointensity of the white matter. Twenty-nine different pathogenic variants (including 12 new disease-causing variants) in POLR1C were identified.ConclusionsThis study provides a comprehensive description of POLR3-HLD caused by biallelic POLR1C pathogenic variants based on the largest cohort of patients to date. These results suggest distinct characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.

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Lesmana, Harry, Marissa Vawter Lee, Seyed Ali Hosseini, T. Andrew Burrow, Barbara Hallinan, Kevin Bove, Mark Schapiro et Robert J. Hopkin. « CNTNAP1-Related Congenital Hypomyelinating Neuropathy ». Pediatric Neurology 93 (avril 2019) : 43–49. http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.014.

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Barkovich, A. James, et Sean Deon. « Hypomyelinating disorders : An MRI approach ». Neurobiology of Disease 87 (mars 2016) : 50–58. http://dx.doi.org/10.1016/j.nbd.2015.10.015.

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Bassani, R., D. Pareyson, L. D’Incerti, D. Di Bella, F. Taroni et E. Salsano. « Pendular nystagmus in hypomyelinating leukodystrophy ». Journal of Clinical Neuroscience 20, n^o 10 (octobre 2013) : 1443–45. http://dx.doi.org/10.1016/j.jocn.2012.11.014.

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Steenweg, Marjan E., Nicole I. Wolf, Wessel N. van Wieringen, Frederik Barkhof, Marjo S. van der Knaap et Petra J. W. Pouwels. « Quantitative MRI in hypomyelinating disorders ». Neurology 87, n^o 8 (20 juillet 2016) : 752–58. http://dx.doi.org/10.1212/wnl.0000000000003000.

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Hengel, Holger, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid et al. « CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis ». Neurology Genetics 3, n^o 2 (22 mars 2017) : e144. http://dx.doi.org/10.1212/nxg.0000000000000144.

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Objective:To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene.Methods:In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping.Results:We identified 3 novel CNTNAP1 mutations in 5 patients from 2 families: c.2015G>A:p.(Trp672*) in a homozygous state in family 1 and c.2011C>T:p.(Gln671*) in a compound heterozygous state with c.2290C>T:p.(Arg764Cys) in family 2. Affected patients suffered from a severe CNS disorder with hypomyelinating leukodystrophy and peripheral neuropathy of sensory-motor type. Arthrogryposis was present in 2 patients but absent in 3 patients. Brain MRI demonstrated severe hypomyelination and secondary cerebral and cerebellar atrophy as well as a mega cisterna magna and corpus callosum hypoplasia. Nerve biopsy revealed very distinct features with lack of transverse bands at the paranodes and widened paranodal junctional gaps.Conclusions:CNTNAP1 mutations have recently been linked to patients with arthrogryposis multiplex congenita. However, we show that arthrogryposis is not an obligate feature. CNTNAP1-related disorders are foremost severe hypomyelinating disorders of the CNS and the peripheral nervous system. The pathology is partly explained by the involvement of CNTNAP1 in the proper formation and preservation of paranodal junctions and partly by the assumed role of CNTNAP1 as a key regulator in the development of the cerebral cortex.

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Szűcs, Zsuzsanna, Réka Fitala, Ágnes Renáta Nyuzó, Krisztina Fodor, Éva Czemmel, Nóra Vrancsik, Mónika Bessenyei, Tamás Szabó, Katalin Szakszon et István Balogh. « Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary ». Genes 12, n^o 9 (27 août 2021) : 1331. http://dx.doi.org/10.3390/genes12091331.

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Ufmylation is a relatively newly discovered type of post-translational modification when the ubiquitin-fold modifier 1 (UFM1) protein is covalently attached to its target proteins in a three-step enzymatic reaction involving an E1 activating enzyme (UBA5), E2 conjugating enzyme (UFC1), and E3 ligase enzyme (UFL1). The process of ufmylation is essential for normal brain development and function in humans. Mutations in the UFM1 gene are associated with Hypomyelinating leukodystrophy type 14, presenting with global developmental delay, failure to thrive, progressive microcephaly, refractive epilepsy, and hypomyelination, with atrophy of the basal ganglia and cerebellum phenotypes. The c.-155_-153delTCA deletion in the promoter region of UFM1 is considered to be a founding mutation in the Roma population. Here we present four index patients with homozygous UFM1:c.-155_-153delTCA mutation detected by next-generation sequencing (whole genome/exome sequencing) or Sanger sequencing. This mutation may be more common in the Roma population than previously estimated, and the targeted testing of the UFM1:c.-155_-153delTCA mutation may have an indication in cases of hypomyelination and neurodegenerative clinical course in pediatric patients of Roma descent.

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Ito, Yoko, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment et Kristin D. Kernohan. « Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy ». Neurology Genetics 4, n^o 6 (13 novembre 2018) : e288. http://dx.doi.org/10.1212/nxg.0000000000000288.

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Ghamdi, Mohammed, Dawna L. Armstrong et Geoffrey Miller. « Congenital hypomyelinating neuropathy : A reversible case ». Pediatric Neurology 16, n^o 1 (janvier 1997) : 71–73. http://dx.doi.org/10.1016/s0887-8994(96)00262-7.

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Dixon, Luke. « Hypomyelinating leukodystrophies : Navigating the diagnostic maze ». European Journal of Paediatric Neurology 27 (juillet 2020) : 3. http://dx.doi.org/10.1016/j.ejpn.2020.06.015.

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Hattori, Kohei, Kenji Tago, Shiori Memezawa, Arisa Ochiai, Sui Sawaguchi, Yukino Kato, Takanari Sato et al. « The Infantile Leukoencephalopathy-Associated Mutation of C11ORF73/HIKESHI Proteins Generates De Novo Interactive Activity with Filamin A, Inhibiting Oligodendroglial Cell Morphological Differentiation ». Medicines 8, n^o 2 (1 février 2021) : 9. http://dx.doi.org/10.3390/medicines8020009.

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Background: Genetic hypomyelinating diseases are a heterogeneous group of disorders involving the white matter. One infantile hypomyelinating leukoencephalopathy is associated with the homozygous variant (Cys4-to-Ser (C4S)) of the c11orf73 gene. Methods: We observed that in mouse oligodendroglial FBD-102b cells, the C4S mutant proteins but not the wild type ones of C11orf73 are microscopically localized in the lysosome. And, they downregulate lysosome-related signaling in an immunoblotting technique. Results: The C4S mutant proteins specifically interact with Filamin A, which is known to anchor transmembrane proteins to the actin cytoskeleton; the C4S mutant proteins and Filamin A are also observed in the lysosome fraction. While parental FBD-102b cells and cells harboring the wild type constructs exhibit morphological differentiation, cells harboring C4S mutant constructs do not. It may be that morphological differentiation is inhibited because expression of these C4S mutant proteins leads to defects in the actin cytoskeletal network involving Filamin A. Conclusions: The findings that leukoencephalopathy-associated C11ORF73 mutant proteins specifically interact with Filamin A, are localized in the lysosome, and inhibit morphological differentiation shed light on the molecular and cellular pathological mechanisms that underlie infantile hypomyelinating leukoencephalopathy.

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Curiel, Julian, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I. Wolf, Bruce Nmezi et al. « TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes ». Human Molecular Genetics 26, n^o 22 (29 août 2017) : 4506–18. http://dx.doi.org/10.1093/hmg/ddx338.

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Abstract Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). Additionally, TUBB4A mutations are known to result in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell types may be involved. We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). We used a combination of histopathological, biochemical and cellular approaches to determine how these different mutations may have variable cellular effects in neurons and/or oligodendrocytes. Our results demonstrate that specific mutations lead to either purely neuronal, combined neuronal and oligodendrocytic or purely oligodendrocytic defects that closely match their respective clinical phenotypes. Thus, the DYT4 mutation that leads to phenotypes attributable to neuronal dysfunction results in altered neuronal morphology, but with unchanged tubulin quantity and polymerization, with normal oligodendrocyte morphology and myelin gene expression. Conversely, mutations associated with isolated hypomyelination (p.Val255Ile and p.Arg282Pro) and the severe combined phenotype (p.Asn414Lys) resulted in normal neuronal morphology but were associated with altered oligodendrocyte morphology, myelin gene expression, and microtubule dysfunction. The H-ABC mutation (p.Asp249Asn) that exhibits a combined neuronal and myelin phenotype had overlapping cellular defects involving both neuronal and oligodendrocyte cell types in vitro. Only mutations causing hypomyelination phenotypes showed altered microtubule dynamics and acted through a dominant toxic gain of function mechanism. The DYT4 mutation had no impact on microtubule dynamics suggesting a distinct mechanism of action. In summary, the different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition.

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Quitt, Pia R., Andreas Brühschwein, Kaspar Matiasek, Franziska Wielaender, Veera Karkamo, Marjo K. Hytönen, Andrea Meyer‐Lindenberg et al. « A hypomyelinating leukodystrophy in German Shepherd dogs ». Journal of Veterinary Internal Medicine 35, n^o 3 (18 mars 2021) : 1455–65. http://dx.doi.org/10.1111/jvim.16085.

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Vinayagamani, S., Sruthi S. Nair et Soumya Sundaram. « Teaching NeuroImages : Hypomyelinating leukodystrophy with generalized dystonia ». Neurology 94, n^o 3 (20 janvier 2020) : e335-e336. http://dx.doi.org/10.1212/wnl.0000000000008827.

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Barkovich, A. James, et Sean Deon. « Reprint of “Hypomyelinating disorders : An MRI approach ». Neurobiology of Disease 92 (août 2016) : 46–54. http://dx.doi.org/10.1016/j.nbd.2015.10.022.

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McMillan, Hugh J., Sandro Santagata, Frederic Shapiro, Sat Dev Batish, Libby Couchon, Stephen Donnelly et Peter B. Kang. « Novel MPZ mutations and congenital hypomyelinating neuropathy ». Neuromuscular Disorders 20, n^o 11 (novembre 2010) : 725–29. http://dx.doi.org/10.1016/j.nmd.2010.06.004.

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Saher, Gesine, et Sina Kristin Stumpf. « Cholesterol in myelin biogenesis and hypomyelinating disorders ». Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1851, n^o 8 (août 2015) : 1083–94. http://dx.doi.org/10.1016/j.bbalip.2015.02.010.

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Cavusoglu, Dilek, Nihal Olgac Dundar, Pinar Arican, Berk Ozyilmaz et Pinar Gencpinar. « A hypomyelinating leukodystrophy with calcification : oculodentodigital dysplasia ». Acta Neurologica Belgica 120, n^o 5 (25 juin 2019) : 1177–79. http://dx.doi.org/10.1007/s13760-019-01178-4.

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Steenweg, Marjan E. « Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures ». Archives of Neurology 69, n^o 1 (1 janvier 2012) : 125. http://dx.doi.org/10.1001/archneurol.2011.1030.

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Mehta, Paulomi, Melanie Küspert, Tejus Bale, Catherine A. Brownstein, Meghan C. Towne, Umberto De Girolami, Jiahai Shi et al. « Novel mutation inCNTNAP1results in congenital hypomyelinating neuropathy ». Muscle & ; Nerve 55, n^o 5 (3 février 2017) : 761–65. http://dx.doi.org/10.1002/mus.25416.

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Pouwels, Petra J. W., Adeline Vanderver, Genevieve Bernard, Nicole I. Wolf, Steffi F. Dreha‐Kulczewksi, Sean C. L. Deoni, Enrico Bertini et al. « Hypomyelinating leukodystrophies : Translational research progress and prospects ». Annals of Neurology 76, n^o 1 (24 juin 2014) : 5–19. http://dx.doi.org/10.1002/ana.24194.

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Mendes, Marisa I., Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano et al. « RARS1 ‐related hypomyelinating leukodystrophy : Expanding the spectrum ». Annals of Clinical and Translational Neurology 7, n^o 1 (8 décembre 2019) : 83–93. http://dx.doi.org/10.1002/acn3.50960.

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Yan, Huifang, Shuyan Yang, Yiming Hou, Saima Ali, Adrian Escobar, Kai Gao, Ruoyu Duan et al. « Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy ». Cells 11, n^o 8 (9 avril 2022) : 1285. http://dx.doi.org/10.3390/cells11081285.

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Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent deficit of myelin observed on magnetic resonance imaging (MRI). To identify a new disease-associated gene of HLD, trio-based whole exome sequencing was performed for unexplained patients with HLD. Functional studies were performed to confirm the phenotypic effect of candidate protein variants. Two de novo heterozygous variants, c.227T>G p.(L76R) or c.227T>C p.(L76P) in TMEM163 were identified in two unrelated HLD patients. TMEM163 protein is a zinc efflux transporter localized within the plasma membrane, lysosomes, early endosomes, and other vesicular compartments. It has not been associated with hypomyelination. Functional zinc flux assays in HeLa cells stably-expressing TMEM163 protein variants, L76R and L76P, revealed distinct attenuation or enhancement of zinc efflux, respectively. Experiments using a zebrafish model with knockdown of tmem163a and tmem163b (morphants) showed that loss of tmem163 causes dysplasia of the larvae, locomotor disability and myelin deficit. Expression of human wild type TMEM163 mRNAs in morphants rescues the phenotype, while the TMEM163 L76P and L76R mutants aggravated the condition. Moreover, poor proliferation, elevated apoptosis of oligodendrocytes, and reduced oligodendrocytes and neurons were also observed in zebrafish morphants. Our findings suggest an unappreciated role for TMEM163 protein in myelin development and add TMEM163 to a growing list of genes associated with hypomyelination leukodystrophy.

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Steenweg, Marjan E., Adeline Vanderver, Susan Blaser, Alberto Bizzi, Tom J. de Koning, Grazia M. S. Mancini, Wessel N. van Wieringen, Frederik Barkhof, Nicole I. Wolf et Marjo S. van der Knaap. « Magnetic resonance imaging pattern recognition in hypomyelinating disorders ». Brain 133, n^o 10 (27 septembre 2010) : 2971–82. http://dx.doi.org/10.1093/brain/awq257.

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Kashiki, Hitoshi, Heng Li, Sachiko Miyamoto, Hiroe Ueno, Yoshinori Tsurusaki, Chizuru Ikeda, Hirofumi Kurata et al. « POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy ». Neurology Genetics 6, n^o 6 (13 octobre 2020) : e524. http://dx.doi.org/10.1212/nxg.0000000000000524.

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ObjectiveTo further clarify the molecular pathogenesis of RNA polymerase III (Pol III)-related leukodystrophy caused by biallelic POLR1C variants at a cellular level and potential effects on its downstream genes.MethodsExome analysis and molecular functional studies using cell expression and long-read sequencing analyses were performed on 1 family with hypomyelinating leukodystrophy showing no clinical and MRI findings characteristic of Pol III–related leukodystrophy other than hypomyelination.ResultsBiallelic novel POLR1C alterations, c.167T>A, p.M56K and c.595A>T, p.I199F, were identified as causal variants. Functional analyses showed that these variants not only resulted in altered protein subcellular localization and decreased protein expression but also caused abnormal inclusion of introns in 85% of the POLR1C transcripts in patient cells. Unexpectedly, allelic segregation analysis in each carrier parent revealed that each heterozygous variant also caused the inclusion of introns on both mutant and wild-type alleles. These findings suggest that the abnormal splicing is not direct consequences of the variants, but rather reflect the downstream effect of the variants in dysregulating splicing of POLR1C, and potentially other target genes.ConclusionsThe lack of characteristic clinical findings in this family confirmed the broad clinical spectrum of Pol III–related leukodystrophy. Molecular studies suggested that dysregulation of splicing is the potential downstream pathomechanism for POLR1C variants.

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Nissenkorn, Andreea, Shlomo Weintraub, Menachem Sadeh et Tally Lerman-Sagie. « Lissencephaly associated with congenital hypomyelinating and axonal neuropathy ». Pediatric Neurology 19, n^o 4 (octobre 1998) : 313–16. http://dx.doi.org/10.1016/s0887-8994(98)00063-0.

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Al-Abdi, Lama, Fathiya Al Murshedi, Alaa Elmanzalawy, Asila Al Habsi, Rana Helaby, Anuradha Ganesh, Niema Ibrahim, Nisha Patel et Fowzan S. Alkuraya. « CNP deficiency causes severe hypomyelinating leukodystrophy in humans ». Human Genetics 139, n^o 5 (3 mars 2020) : 615–22. http://dx.doi.org/10.1007/s00439-020-02144-4.

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Bugiani, M., S. Al Shahwan, E. Lamantea, A. Bizzi, E. Bakhsh, I. Moroni, M. R. Balestrini, G. Uziel et M. Zeviani. « GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy ». Neurology 67, n^o 2 (17 mai 2006) : 273–79. http://dx.doi.org/10.1212/01.wnl.0000223832.66286.e4.

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Syed, Riaz A. « Hypomyelinating Leukoencephalopathy = إعتلال بياض الدماغ بقلة تكون المايلين ». Sultan Qaboos University Medical Journal 13, n^o 1 (février 2013) : 192–93. http://dx.doi.org/10.12816/0003223.

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Braund, K. G., J. R. Mehta, M. Toivio-Kinnucan, K. A. Amling, L. G. Shell et M. E. Matz. « Congenital Hypomyelinating Polyneuropathy in Two Golden Retriever Littermates ». Veterinary Pathology 26, n^o 3 (mai 1989) : 202–8. http://dx.doi.org/10.1177/030098588902600303.

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Serial peripheral nerve biopsies from two golden retriever littermates with chronic neurologic disease were taken for morphologic and morphometric evaluation. Teased nerve preparations were difficult to interpret due to the lightness of myelin staining. Light and electron microscopic findings were characterized by the following: reduced number of myelinated axons, presence of myelinated sheaths inappropriately thin for the caliber of the fiber, poor myelin compaction, increased numbers of Schwann cell nuclei, increased concentration of neurofilaments in myelinated axons, many Schwann cells with voluminous cytoplasm, and increased perineurial collagen. Onion bulb formation was not seen. In contrast to control data, a poor correlation was seen between numbers of myelin lamellae (ML) and axonal circumference (AC). The frequency distribution of ML ranged from 5 to 55 lamellae in affected animals (mean, 28 lamellae) compared to 20 to 140 lamellae in controls (mean, 66 lamellae). The ML/AC ratio was significantly reduced ( P < 0.001) in nerves of affected dogs. Morphometric results indicated that fibers of all calibers were hypomyelinated.

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Numata, Yurika, Leo Gotoh, Akiko Iwaki, Kenji Kurosawa, Jun-ichi Takanashi, Kimiko Deguchi, Toshiyuki Yamamoto, Hitoshi Osaka et Ken Inoue. « Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies ». Journal of Neurology 261, n^o 4 (16 février 2014) : 752–58. http://dx.doi.org/10.1007/s00415-014-7263-5.

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Solazzi, Roberta, Marco Moscatelli, Davide Rossi Sebastiano, Laura Canafoglia, Laura Pezzoli, Maria Iascone et Tiziana Granata. « Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy ». Neurology Genetics 8, n^o 5 (29 août 2022) : e200022. http://dx.doi.org/10.1212/nxg.0000000000200022.

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ObjectiveTo report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene.MethodsThe methods included clinical case description, neurophysiologic assessment, brain MRI, and whole-exome sequencing (WES).ResultsThe child presented soon after birth with nystagmus and hyperkinetic movement disorder. Focal seizures appeared from 2 months of age and recurred at high frequency, despite several antiseizure medications, and focal epileptic status frequently required IV phenytoin. Control of seizures was achieved at the age of 8 months by the association of high doses of sodium blockers. Clinical picture worsened over time and was characterized by axial hypotonia, failure to thrive requiring gastrostomy, pyramidal sings, and severe secondary microcephaly. MRI performed at ages 2, 6, and 20 months showed diffuse supratentorial and subtentorial hypomyelination; multimodal evoked potentials showed increased latency. WES performed at 6 months of age identified the p.Asp252Asn de novo variant in the TMEM106B gene.DiscussionHyperkinetic movement disorders and seizures may be early symptoms of TMEM106B-HLD. Our observation, supported by video EEG recordings, emphasizes that seizures may be difficult to recognize from movement disorders and that epilepsy may be a severe and prominent symptom of the disease. TMEM106B-HLD should be considered in the genetic screening of infants with early-onset seizures and movement disorders.

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Guder, Philipp, Ulrike Löbel, Britta Fiebig, Ilena Oppermann, Angelika Berger et Annette Bley. « Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause ». Brain Disorders 2 (juin 2021) : 100006. http://dx.doi.org/10.1016/j.dscb.2021.100006.

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Murtazina, A. F., T. V. Markova, A. A. Orlova, O. P. Ryzhkova, O. A. Shchagina et E. L. Dadali. « POLR3A-related hypomyelinating leukodystrophy : case report and literature review ». Neuromuscular Diseases 11, n^o 4 (6 décembre 2020) : 48–54. http://dx.doi.org/10.17650/2222-8721-2021-11-4-48-54.

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Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A gene. We reported the first clinical case of a Russian patient with HL type 7.Proband is a 7‑year‑old patient with HL type 7. The diagnosis was confirmed by genealogy, neurological examination, brain magnetic resonance imaging and molecular genetic testing. Two compound‑heterozygous variants in the POLR3A gene were revealed in the patient. Each variant was described earlier in patients with variable clinical manifestations of neurodegenerative diseases. The peculiarities of clinical manifestations in our patient were the manifestation of the disease in the first year of life, the predominance of cerebellar symptoms, a movement limitation of the jaw, leading to worsening of dysarthria, a delay in the formation of permanent teeth and short stature. The course of the disease was moderate that could be explained by different effect of the variants in the POLR3A gene.POLR3A‑related disease is a group of clinically heterogeneous disorders manifesting from early childhood to adulthood and characterized by isolated spastic ataxia or ataxia combined with oligodontia and hypogonadotropic hypogonadism, isolated or complicated spastic paraplegia, as well as a combination of ataxia with extrapyramidal symptoms. Our case report demonstrates the complexity of diagnostic process in the absence of a peculiar clinical picture and specific changes in brain imaging.

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Kraoua, Ichraf, Imen Dorboz, Sonia Abdelhak, Odile Boespflug Tanguy et Ilhem Ben Youssef Turki. « Genetic characterization of hypomyelinating leukodystrophies in the Tunisian cohort ». Journal of the Neurological Sciences 429 (octobre 2021) : 118263. http://dx.doi.org/10.1016/j.jns.2021.118263.

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Sevilla, Teresa, Vincenzo Lupo, Rafael Sivera, Clara Marco-Marín, Dolores Martínez-Rubio, Eloy Rivas, Arturo Hernández, Francesc Palau et Carmen Espinós. « Congenital hypomyelinating neuropathy due to a novel MPZ mutation ». Journal of the Peripheral Nervous System 16, n^o 4 (décembre 2011) : 347–52. http://dx.doi.org/10.1111/j.1529-8027.2011.00369.x.

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Miyatake, S., H. Osaka, M. Shiina, M. Sasaki, J. i. Takanashi, K. Haginoya, T. Wada et al. « Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies ». Neurology 82, n^o 24 (21 mai 2014) : 2230–37. http://dx.doi.org/10.1212/wnl.0000000000000535.

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Levy, Beth K., Glen A. Fenton, Sergio Loaiza et Ghazala R. Hayat. « Unexpected recovery in a newborn with severe hypomyelinating neuropathy ». Pediatric Neurology 16, n^o 3 (avril 1997) : 245–48. http://dx.doi.org/10.1016/s0887-8994(97)89977-8.

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Arai-Ichinoi, Natsuko, Mitsugu Uematsu, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Atsuo Kikuchi, Naomi Hino-Fukuyo et al. « Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy ». Human Genetics 135, n^o 1 (23 novembre 2015) : 89–98. http://dx.doi.org/10.1007/s00439-015-1617-7.

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Di Meglio, C., V. Delague, M. Milh et B. Chabrol. « Two new mutations in POLR1C gene cause hypomyelinating leukodystrophy ». European Journal of Paediatric Neurology 21 (juin 2017) : e63. http://dx.doi.org/10.1016/j.ejpn.2017.04.929.

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Pant, Devesh C., Imen Dorboz, Agatha Schluter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera-Albesa et al. « Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy ». Journal of Clinical Investigation 129, n^o 3 (11 février 2019) : 1240–56. http://dx.doi.org/10.1172/jci123959.

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Kusk, Maria, Bodil Damgaard, Lotte Risom, Bente Hansen et Elsebet Ostergaard. « Hypomyelinating Leukodystrophy due to HSPD1 Mutations : A New Patient ». Neuropediatrics 47, n^o 05 (12 juillet 2016) : 332–35. http://dx.doi.org/10.1055/s-0036-1584564.

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Dreha-Kulaczewski, Steffi F., Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner et G. Helms. « Assessment of myelination in hypomyelinating disorders by quantitative MRI ». Journal of Magnetic Resonance Imaging 36, n^o 6 (16 novembre 2012) : spcone. http://dx.doi.org/10.1002/jmri.23557.

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Dreha-Kulaczewski, Steffi F., Knut Brockmann, Marco Henneke, Peter Dechent, Bernd Wilken, Jutta Gärtner et G. Helms. « Assessment of myelination in hypomyelinating disorders by quantitative MRI ». Journal of Magnetic Resonance Imaging 36, n^o 6 (21 août 2012) : 1329–38. http://dx.doi.org/10.1002/jmri.23774.

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