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A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene

Authors :
Ruriko Kitao
Yutaka Honma
Tetsuo Komori
Akihiro Hashiguchi
Kouichi Mizoguchi
Hiroshi Takashima
Source :
Rinsho Shinkeigaku. 60:466-472
Publication Year :
2020
Publisher :
Societas Neurologica Japonica, 2020.

Abstract

The patient was a 29-year-old male. He took his first steps at two-and-a-half years old, but his physical strength deteriorated and he became non-ambulatory at 12 years old. He had respiratory failure at the age of 20, and finally underwent tracheostomy with invasive positive-pressure ventilation (TPPV). He showed distal dominant muscle weakness and atrophy, including the face. Spinal scoliosis was recognized. He had peripheral predominance of sensory disorders. Nerve conduction studies showed a decrease of compound muscle action potential and a reduction of motor nerve conduction velocity. Sensory nerve action potential was not evoked. In genetic analysis, c.23 C> T (p. T8M) heterozygous mutation was found in the senataxin gene (SETX). Although SETX is a causative gene of familial amyotrophic lateral sclerosis type 4 (ALS4), this case suggests that SETX mutation can also cause motor and sensory polyneuropathy.

Details

ISSN :
18820654 and 0009918X
Volume :
60
Database :
OpenAIRE
Journal :
Rinsho Shinkeigaku
Accession number :
edsair.doi.dedup.....b8e267cc94a2a3e2d083ef08182ada6f
Full Text :
https://doi.org/10.5692/clinicalneurol.60.cn-001415