A novel mutation in the GARS gene in a Malian family with Charcot ‐Marie‐Tooth disease

ConclusionThis is the first report of a genetically confirmed CMT2D case in Africa, expanding its genetic epidemiology. Increasing access to genetic testing may reveal more novel CMT variants or genes in the African population that could be relevant to other populations and further our understanding of their mechanism.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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We report on a series of 13 patients with AR-CMTde-SH3TC2 among a French cohort of 350 patients suffering from all type of inheritance peripheral neuropathy. The SH3TC2 gene appeared to be the most frequently mutated gene for demyelinating neuropathy in this series by NGS. Four new pathogenic variants have been identified: two nonsense variants (p.(Tyr970*), p.(Trp1199*)) and two missense variants (p.(Leu1126Pro), p.(Ala1206Asp)).
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Clinical Short Communication Source Type: research
Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
This report is the first of a patient successfully treated for medulloblastoma without vincristine. PMID: 31043836 [PubMed - in process]
Source: Current Oncology - Category: Cancer & Oncology Tags: Curr Oncol Source Type: research
Conclusion: There may be an association between schizophrenia and HNPP. In observational studies, the deletion of interest (chromosome 17p12) was nearly 10 times more common in schizophreniform patients than in controls. This potential association could be pathophysiologically explained by the role of PMP22, which is mainly expressed in the peripheral nervous system. However, PMP22 mRNA and protein can also be found in the brain. PMP22 seems to play an important role in regulating cell growth and myelination, functions that are disturbed in schizophrenia. Such a connection obviously cannot be clarified on the basis of one ...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies affecting 3 to 82 per 100,000 individuals of both sexes and all backgrounds [1]. CMT is characterised by demyelination and/or axonal degeneration of the peripheral nerves, with typical onset in the first two decades of life [2,3]. More than 90 causative genes have been identified so far, and CMT type 1A is the most common subtype [4]. Most patients exhibit a length-dependent progression of symptoms and impairments, with symptoms initially distal at the feet and hands, progressing proximally.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Declarati...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Mutations in the MFN2 gene encoding Mitofusin 2 lead to the development of Charcot–Marie–Tooth type 2A (CMT2A), a dominant axonal form of peripheral neuropathy. Mitofusin 2 is localized at both the outer membrane of mitochondria and the endoplasmic reticulum and is particularly enriched at specialized contact regions known as mitochondria-associated...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: PNAS Plus Source Type: research
In this study we show that mutations in HSPB1 lead to impairment of macroautophagic/autophagic flux. In HSPB1 knockout cells, we demonstrate that HSPB1 is necessary for autophagosome formation, which was rescued upon re-expression of HSPB1. Employing a label-free LC-MS/MS analysis on the various HSPB1 variants (wild type and mutants), we identified autophagy-specific interactors. We reveal that the wild-type HSPB1 protein binds to the autophagy receptor SQSTM1/p62 and that the PB1 domain of SQSTM1 is essential for this interaction. Mutations in HSPB1 lead to a decrease in the formation of SQSTM1/p62 bodies, and subsequent ...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
We report a case of an effect of VCR administration given to a patient who developed grade 4 neuropathy and was found to be a carrier of Charcot-Marie-Tooth disease type 4.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
AbstractMutations in theSACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix –Saguenay, ARSACS). In the past few years, the phenotypic spectrum has broadened, mainly owing to the availability and application of high-throughput genetic testing methods. We identified nine patients (three sib pairs, three singleton cases) with isolated, non-syndromic hereditary motor and sens ory neuropathy (HMSN) who carri...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
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