Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant

Shohei Beppu, M.D.1), Kensuke Ikenaka, M.D., Ph.D.1), Taiki Yabumoto, M.D., Ph.D.1), Kenichi Todo, M.D., Ph.D.1), Akihiro Hashiguchi, M.D., Ph.D.2), Hiroshi Takashima, M.D., Ph.D.2) and Hideki Mochizuki, M.D., Ph.D.1)

1) Department of Neurology, Osaka University Graduate School of Medicine
2) Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

A 67-year-old man presented slowly progressive weakness of the extremities visited our hospital. Nerve conduction study showed axonal neuropathy and needle electromyography showed neurogenic changes with denervation findings in multiple limb muscles. While he was diagnosed as Probable amyotrophic lateral sclerosis (ALS), which is defined by the Awaji criteria for diagnosis of ALS, he did not develop either respiratory muscle paralysis or bulbar palsy, which are characteristic symptoms of sporadic ALS. Genetic testing revealed a novel gene variant in senataxin (SETX), the causative gene of ALS4. We could not make a definite diagnosis of ALS4 because he had no relatives who could perform genetic testing (segregation study). However, we considered the variant can be pathogenic because it was not previously reported and absent in at least 1,000 healthy control individuals, the variant site was highly conserved in mammals, and it may impair the function of senataxin protein (in silico analysis).
Full Text of this Article in Japanese PDF (1394K)

(CLINICA NEUROL, 62: 205−210, 2022)
key words: familial amyotrophic lateral sclerosis, ALS4, senataxin, SETX gene, gene variant

(Received: 19-Jul-21)