Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
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چکیده
منابع مشابه
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). It is well known that HMSN VI is an axonal CMT neuropathy with optic atrophy. However, the differences between CMT2A and HMSN VI with MFN2 mutations remained to be clar...
متن کاملClinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
BACKGROUND To date, 13 different neurofilament light-chain polypeptide gene (NEFL) mutations have been identified in 55 patients with Charcot-Marie-Tooth disease (CMT) from 16 families. NEFL mutations were found to be associated with axonal and demyelinating variants of CMT. OBJECTIVES To describe the clinical features of 11 patients with CMT and NEFL mutations and to explore possible genotyp...
متن کاملTwo novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
BACKGROUND X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probab...
متن کاملTwo Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
BACKGROUND Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Tai...
متن کاملPhenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.
Mutations in the neurofilament light (NFL) gene cause Charcot-Marie-Tooth (CMT) disease. There is a wide range of clinical presentations in CMT patients harboring NFL mutations, with patients classified as CMT2E or CMT1F. In this study, we analyzed the effects of five NFL mutations on the assembly and intracellular distribution of intermediate filaments (IFs), and compared the results with thos...
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ژورنال
عنوان ژورنال: Brain
سال: 2003
ISSN: 1460-2156
DOI: 10.1093/brain/awg059