Article
Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.
BMC neurology - 4 Sept 2024
Nakamura Haruko, Doi Hiroshi, Miyaji Yosuke, Wada Taishi, Takahashi Erisa, Tada Mikiko, Fukuda Hiromi, Fujita Atsushi, Higashiyama Yuichi, Nagao Yuri, Kimura Kazue, Hayashi Masaharu, Hoshino Kyoko, Matsumoto Naomichi, Tanaka Fumiaki
Abstract excerpt
BACKGROUND: Pathogenic variants in Gap junction protein beta 1 (GJB1), which encodes Connexin 32, are known to cause X-linked Charcot-Marie-Tooth disease (CMTX), the second most common form of CMT. CMTX presents with the following five central nervous systems (CNS) phenotypes: subclinical electrophysiological abnormalities, mild fixed abnormalities on neurological examination and/or imaging, transient CNS...
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