title: Autonomic failure in ALS with a novel SOD1 gene mutation.
abstract: The authors report a patient with ALS and a novel SOD1 gene mutation who was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest. A neuropathologic study showed widespread multisystem degeneration, including involvement of the autonomic nuclei in the medulla and spinal cord. SOD1 gene analysis detected a missense mutation of V118L in exon 4. These findings show notable phenotypic heterogeneity for SOD1-associated ALS.
authors.affiliation: Departments of Neurology, Tokyo Metropolitan Neurological Hospital, Japan. tjshimizu@aol.com
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: A
authors.initials: A
authors.lastname: Kawata
authors.forename: S
authors.initials: S
authors.lastname: Kato
authors.forename: M
authors.initials: M
authors.lastname: Hayashi
authors.forename: K
authors.initials: K
authors.lastname: Takamoto
authors.forename: H
authors.initials: H
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Hirai
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Komori
authors.forename: M
authors.initials: M
authors.lastname: Oda
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006323:Heart Arrest / Q000175:diagnosis; D006801:Humans; D008526:Medulla Oblongata / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D011782:Quadriplegia / Q000175:diagnosis / Q000235:genetics; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1