Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
نویسندگان
چکیده
منابع مشابه
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
متن کاملAdult-onset demyelinating neuropathy associated with FBLN5 gene mutation
Rare forms of autosomal-dominant Charcot-Marie-Tooth disease (AD-CMT) may be associated with mutations in Fibulin-5 (FBLN5) as AD-CMT is genetically heterogeneous. Here, we report the first pathological study of an Asian family. The proband was a 46-year-old man with slowly progressive distal numbness and weakness for 12 years. He had a history of diabetes mellitus for 12 years. His mother was ...
متن کاملClinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
BACKGROUND The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) is a hereditary motor and sensory neuropathy linked to a variety of mutations in the connexin32 (Cx32) gene. Clinical and genetic features of CMTX have not previously been reported in Taiwanese. METHODS Clinical evaluations and electrophysiological studies were carried out on 25 family members of a Taiwanese family group. ...
متن کاملNeurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
AIM Longitudinal assessment of clinical and neurophysiological abnormalities in childhood and adolescence and incidence analysis of tandem Charcot-Marie-Tooth disease type 1A gene duplication in Croatian children with Charcot-Marie-Tooth type 1 neuropathy. METHODS Eight Croatian children with Charcot-Marie-Tooth type 1 neuropathy, aged 4-19 years, were studied clinically, neurophysiologically...
متن کاملExpression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.
Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in mammalian cells. How mutations in this protein lead to Charcot-Marie-Tooth disease type 2A pathophysiology remains unclear. We have generated a transg...
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ورودعنوان ژورنال:
- Brain : a journal of neurology
دوره 136 Pt 7 شماره
صفحات -
تاریخ انتشار 2013