A case with CMTX1 disease showing transient ischemic-attack-like episodes
Küçük Resim Yok
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
ELSEVIER URBAN & PARTNER SP Z O O
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Transient ischemic-attack-like, Stroke-like, CMTX1, GJB1, Pes cavus
Kaynak
NEUROLOGIA I NEUROCHIRURGIA POLSKA
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
52
Sayı
2
