A Japanese familial ALS patient with autonomic failure and a p. Cys146Arg mutation in the gene for SOD1 (SOD1)

作者：Hayashi Kentaro; Mochizuki Yoko^*; Koide Reiji; Kawata Akihiro; Homma Taku; Shimizu Toshio; Komori Takashi; Isozaki Eiji

来源：Neuropathology, 2016, 36(6): 551-555.

DOI：10.1111/neup.12303

• autonomic failure
• familial ALS
• orthostatic hypotension
• SOD1
• p.Cys146Arg

We describe a Japanese man with familial amyotrophic lateral sclerosis (ALS) associated with a p. Cys146Arg mutation in the copper/zinc superoxide dismutase gene (SOD1). The patient developed bulbar signs followed by rapidly progressive limb muscle weakness. The prominent clinical feature was orthostatic hypotension due to autonomic failure, which occurred after he underwent tracheostomy 1 year and 3 months after the onset. Thereafter, he required mechanical ventilation and progressed to communication stage V (totally locked-in state) 7 years after the onset. Neuropathology showed ALS with posterior column degeneration and multiple system degeneration. Severe neuronal loss in the intermediolateral nucleus was also observed. Two previously reported cases of ALS patients with autonomic failure showed severe neuronal loss in the intermediolateral nucleus in addition to degeneration of the motor neurons. Thus, autonomic failure due to neuronal loss in the intermediolateral nucleus could present in patients with ALS associated with certain mutations in SOD1.

• 出版日期2016-12