Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study

Kimiko Inoue; Harutoshi Fujimura; Yasuko Ogawa; Tomoharu Satoh; Kennichi Shimada; Saburo Sakoda

doi:10.1080/146608202760839012

Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study

Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Dec;3(4):244-7. doi: 10.1080/146608202760839012.

Authors

Kimiko Inoue¹, Harutoshi Fujimura, Yasuko Ogawa, Tomoharu Satoh, Kennichi Shimada, Saburo Sakoda

Affiliation

¹ Department of Neurology, Kasai Municipal Hospital, 1-13, Yokoo, Hojo-cho, Kasai, Hyogo 675-2393, Japan.

PMID: 12710516
DOI: 10.1080/146608202760839012

Abstract

A familial amyotrophic lateral sclerosis (FALS) patient with G37R mutation of superoxide dismutase 1 (SOD1) gene revealed an early onset and relatively slow progression. Neuropathological examination of this patient showed widespread neuronal degeneration extending to overall length of the spinal cord and the brainstem with extremely rare Lewy body-like inclusions (LBI), while there were no vacuoles in neurons, a characteristic feature in transgenic mice expressing G37R SOD1 mutation.

Publication types

Case Reports

MeSH terms

Amyotrophic Lateral Sclerosis / enzymology
Amyotrophic Lateral Sclerosis / etiology
Amyotrophic Lateral Sclerosis / genetics*
Arginine / genetics*
Brain Stem / pathology
DNA Mutational Analysis
Exons
Glycine / genetics*
Humans
Lewy Body Disease / diagnosis
Male
Middle Aged
Point Mutation*
Spinal Cord / pathology
Superoxide Dismutase / genetics*
Superoxide Dismutase-1

Substances

SOD1 protein, human
Arginine
Sod1 protein, mouse
Superoxide Dismutase
Superoxide Dismutase-1
Glycine