Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
نویسندگان
چکیده
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is the second most common hereditary motor sensory neuropathy (HMSN) representing an estimated 10%–15% of occurrences. CMTX1 arises from mutations in the gap-junction beta-1 gene (GJB1) on chromosome Xq13.1, which encodes the gap-junction protein connexin-32. Rather unique to CMTX1, among other forms of HMSN, is CNS involvement in a minority of patients with CMTX1. We discuss the case of a 28-year-old man who presented with abrupt-onset severe dysarthria initially interpreted as being symptoms of stroke. In subsequent workup, his presentation was found to be due to previously undiagnosed CMTX1.
منابع مشابه
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications
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