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

Aktan Z., Akcakaya N. H., Tekturk P., Deniz E., Koyuncu B., Yapici Z.

NEUROLOGIA I NEUROCHIRURGIA POLSKA, vol.52, no.2, pp.285-288, 2018 (SCI-Expanded, Scopus)

Abstract

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. (c) 2017 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved.