A case with CMTX1 disease showing transient ischemic-attack-like episodes

Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are...

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Bibliographic Details
Published in:Neurologia i neurochirurgia polska 2018-03, Vol.52 (2), p.285-288
Main Authors: Aktan, Zehra, Akcakaya, Nihan Hande, Tekturk, Pinar, Deniz, Engin, Koyuncu, Bahar, Yapici, Zuhal
Format: Article
Language:English
Subjects:
Adolescent
Charcot-Marie-Tooth Disease - genetics
CMTX1
Connexins
GJB1
Humans
Ischemic Attack, Transient - genetics
Male
Mutation
Pes cavus
Stroke
Stroke-like
Transient ischemic attack
Transient ischemic-attack-like
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Summary:Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who had stroke-like findings along with foot deformities and peripheral neuropathy. Strokes and stroke-like attacks are rarely seen in children and adolescents. Herein, neurological signs, MRI findings and genetic results of a CMTX1 case are presented and discussed.
ISSN:0028-3843
1897-4260
DOI:10.1016/j.pjnns.2017.10.016