Rinsho Shinkeigaku (Clinical Neurology)

Case Report

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

Ruriko Kitao, M.D., Ph.D.1), Yutaka Honma, M.D., Ph.D.2), Akihiro Hashiguchi, M.D., Ph.D.3), Kouichi Mizoguchi, M.D., Ph.D.2), Hiroshi Takashima, M.D., Ph.D.3) and Tetsuo Komori, M.D., Ph.D.1)

1) Department of Neurology, National Hospital Organization Hakone Hospital
2) Department of Neurology, National Hospital Organization Shizuoka Fuji Hospital(Present address: Department of Neurology, National Hospital Organization Shizuoka Medical Center)
3) Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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.
Full Text of this Article in Japanese PDF (5450K)

(CLINICA NEUROL, 60: 466−472, 2020)
key words: senataxin, motor and sensory polyneuropathy, respiratory failure, ALS4

(Received: 11-Jan-20)