Abstract
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (GJB1). Here, a novel variant of c.-170T>G in GJB1 was identified in a large Chinese CMTX1 pedigree. The proband presented transient “stroke-like” episodes in addition to the peripheral neuropathy. At the time of episode, he had transient hyperthyroidism. To our knowledge, this is the first variant found in non-coding region associated with transient central nervous system (CNS) symptoms and in this case, thyroid dysfunction might contribute to the episode. The mechanism of CMTX1 as well as the transient CNS symptoms waits to be elucidated.
Highlights
X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited axonal or mixed axonal-demyelinating disease of the peripheral nervous system, characterized by slowly progressive distal muscle weakness and atrophy, decreased or absent deep tendon reflexes, sensory abnormalities, and foot deformities
The clinical features of a big Chinese CMTX type 1 (CMTX1) pedigree were described, in which the proband presented with transient central nervous system (CNS) symptoms and transient hyperthyroidism
This is the first variant identified in non-coding region associated with transient CNS symptoms [3, 4] and thyroid dysfunction might be a contributor of this episode in this case
Summary
X-linked Charcot-Marie-Tooth disease (CMTX) is an inherited axonal or mixed axonal-demyelinating disease of the peripheral nervous system, characterized by slowly progressive distal muscle weakness and atrophy, decreased or absent deep tendon reflexes, sensory abnormalities, and foot deformities (pes cavus and hammer toes). A novel NM_000166.5 c.-170T>G (chrX:70443032 GRCh37) variant in GJB1 was found in this pedigree To current reports, this is the first variant identified in non-coding region associated with transient CNS symptoms [3, 4] and thyroid dysfunction might be a contributor of this episode in this case. The proband (IV-1 in Figure 1), a 28-year-old man, was admitted into our department for recurrent dysphonia and asymmetric weakness of four limbs with the right side more severely affected He had experienced the similar episodes twice when he was 14 and 20 years old. The symptoms lasted 4–6 h and resolved without treatment He denied any infection, exercises, or other possible inducer before the onsets. Exercises, or other possible inducer before the onsets This time the symptoms completely disappeared after 5 h. Physical examination revealed bilateral facial palsy, dysarthria, and bilateral positive Babinski sign,
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