Autonomic failure in ALS with a novel SOD1 gene mutation

T Shimizu; A Kawata; S Kato; M Hayashi; K Takamoto; H Hayashi; S Hirai; S Yamaguchi; T Komori; M Oda

doi:10.1212/wnl.54.7.1534

Autonomic failure in ALS with a novel SOD1 gene mutation

Neurology. 2000 Apr 11;54(7):1534-7. doi: 10.1212/wnl.54.7.1534.

Authors

T Shimizu¹, A Kawata, S Kato, M Hayashi, K Takamoto, H Hayashi, S Hirai, S Yamaguchi, T Komori, M Oda

Affiliation

¹ Departments of Neurology, Tokyo Metropolitan Neurological Hospital, Japan. [email protected]

PMID: 10751275
DOI: 10.1212/wnl.54.7.1534

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.

Publication types

Case Reports

MeSH terms

Adult
Amyotrophic Lateral Sclerosis / diagnosis
Amyotrophic Lateral Sclerosis / genetics*
Autonomic Nervous System Diseases / diagnosis
Autonomic Nervous System Diseases / genetics*
Disease Progression
Fatal Outcome
Female
Heart Arrest / diagnosis
Humans
Medulla Oblongata / pathology
Mutation, Missense / genetics
Polymerase Chain Reaction
Quadriplegia / diagnosis
Quadriplegia / genetics
Spinal Cord / pathology
Superoxide Dismutase / genetics*
Superoxide Dismutase-1

Substances

SOD1 protein, human
Superoxide Dismutase
Superoxide Dismutase-1