Variable sensory nerve conduction parameters in late onset Friedreich ataxia
نویسندگان
چکیده
منابع مشابه
Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Ons...
متن کاملVery late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
BACKGROUND Most patients with Friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded alleles correlates significantly with parameters of clinical severity and is inversely related to the age at onset. OBJECTIVES To describe the clinical and molecular genetic findings in a patient with very late-ons...
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Research evaluating the changes in nerve conduction with time has been limited to cross-sectional studies. We present a cohort study estimating how sensory nerve conduction study (NCS) parameters change with time when subjects are measured at two time-points. We evaluated 440 working adults by performing median and ulnar antidromic sensory NCS of both hands on two occasions, about 5.4 years (ra...
متن کاملLate-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.
BACKGROUND Friedreich ataxia (FA), the most common hereditary ataxia, is caused by pathological expansion of GAA repeats in the first intron of the X25 gene on chromosome 9. Since the discovery of the gene, atypical features are increasingly recognized in individuals with FA, and up to 25% of patients with recessive or sporadic ataxia do not fulfill the Harding or Quebec Cooperative Study on Fr...
متن کاملExonic deletions of FXN and early-onset Friedreich ataxia.
BACKGROUND Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are ...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2016
ISSN: 0148-639X
DOI: 10.1002/mus.25363