title: A Japanese familial ALS patient with autonomic failure and a p.Cys146Arg mutation in the gene for SOD1 (SOD1).
abstract: 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.
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Hayashi
authors.affiliation: Department of Pathology, Tokyo Metropolitan Neurological Hospital.|Department of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation center for the disabled.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Mochizuki
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital.|Division of Neurology, Department of Medicine, Jichi Medical University School of Medicine.
authors.forename: Reiji
authors.initials: R
authors.lastname: Koide
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Kawata
authors.affiliation: Department of Pathology, Tokyo Metropolitan Neurological Hospital.|Department of Pathology, Nihon University School of Medicine.
authors.forename: Taku
authors.initials: T
authors.lastname: Homma
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital.
authors.forename: Toshio
authors.initials: T
authors.lastname: Shimizu
authors.affiliation: Department of Pathology, Tokyo Metropolitan Neurological Hospital.
authors.forename: Takashi
authors.initials: T
authors.lastname: Komori
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital.
authors.forename: Eiji
authors.initials: E
authors.lastname: Isozaki
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D044466:Asian People; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D012791:Shy-Drager Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D000072105:Superoxide Dismutase-1 / Q000235:genetics*
chemical_list: C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1
keywords: SOD1; autonomic failure; familial ALS; orthostatic hypotension; p.Cys146Arg