Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
نویسندگان
چکیده
منابع مشابه
Clinical 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 کاملCharcot Marie Tooth disease (CMT4A) due to GDAP1 mutation
BACKGROUND Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. OBJECTIVE We describe physical and histological fe...
متن کاملINF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin ...
متن کاملclinical features of charcot-marie-tooth (cmt) disease
cmt disease is the most common inherited neuromuscular disorder, with its estimated prevalence being 17–40:100,000. although it is genetically a highly heterogeneous disorder, the clinical phenotype is relatively homogeneous. this is characterized by wasting and weakness of distal limb muscles, involving especially the peroneal compartment (hence the old term of peroneal muscular atrophy), usua...
متن کاملCharcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2021
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2021.17.1.52