open access

Vol 52, No 2 (2018)
Case reports
Submitted: 2017-07-13
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A case with CMTX1 disease showing transient ischemic-attack-like episodes

Zehra Aktan, Nihan Hande Akcakaya, Pinar Tekturk, Engin Deniz, Bahar Koyuncu, Zuhal Yapici
DOI: 10.1016/j.pjnns.2017.10.016
·
Neurol Neurochir Pol 2018;52(2):285-288.

open access

Vol 52, No 2 (2018)
Case reports
Submitted: 2017-07-13

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.

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.

Get Citation

Keywords

Transient ischemic-attack-like, Stroke-like, CMTX1, GJB1, Pes cavus

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 52, No 2 (2018)

Pages

285-288

DOI

10.1016/j.pjnns.2017.10.016

Bibliographic record

Neurol Neurochir Pol 2018;52(2):285-288.

Keywords

Transient ischemic-attack-like
Stroke-like
CMTX1
GJB1
Pes cavus

Authors

Zehra Aktan
Nihan Hande Akcakaya
Pinar Tekturk
Engin Deniz
Bahar Koyuncu
Zuhal Yapici

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