Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a novel missense mutation in exon 4 (Asp101Tyr) of the Cu/Zn superoxide dismutase (SOD1) gene. The disease started with a bulbar symptom (rapidly progressive hoarseness) and at autopsy showed degenerative...

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Published in:Acta neuropathologica 2004-10, Vol.108 (4), p.332-336
Main Authors: Tan, Chun-Feng, Piao, Yue-Shan, Hayashi, Shintaro, Obata, Hiroaki, Umeda, Yoshitaka, Sato, Masahisa, Fukushima, Takao, Nakano, Ryoichi, Tsuji, Shoji, Takahashi, Hitoshi
Format: Article
Language:English
Subjects:
Amyotrophic Lateral Sclerosis - complications
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
Brain - metabolism
Brain - pathology
Hoarseness - etiology
Humans
Immunohistochemistry
Middle Aged
Motor Neurons - pathology
Mutation
Nerve Degeneration - pathology
Pedigree
Polymerase Chain Reaction
Superoxide Dismutase - genetics
Vocal Cord Paralysis - etiology
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container_title Acta neuropathologica
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creator Tan, Chun-Feng
Piao, Yue-Shan
Hayashi, Shintaro
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Umeda, Yoshitaka
Sato, Masahisa
Fukushima, Takao
Nakano, Ryoichi
Tsuji, Shoji
Takahashi, Hitoshi
description We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a novel missense mutation in exon 4 (Asp101Tyr) of the Cu/Zn superoxide dismutase (SOD1) gene. The disease started with a bulbar symptom (rapidly progressive hoarseness) and at autopsy showed degenerative changes restricted to the upper and lower motor neuron systems (more strictly, with lower motor predominance, showing the most severe degeneration in the nucleus ambiguus). Occasional intracytoplasmic Lewy-body-like hyaline inclusions that were immunoreactive for ubiquitin and SOD1, but immunonegative for neurofilament protein, were found in the lower motor neurons. This is the first report of hoarseness as the initial manifestation of FALS. This SOD1 gene mutation may be associated with a particular clinicopathological phenotype.
doi_str_mv 10.1007/s00401-004-0893-4
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subjects Amyotrophic Lateral Sclerosis - complications
Amyotrophic Lateral Sclerosis - genetics
Amyotrophic Lateral Sclerosis - pathology
Brain - metabolism
Brain - pathology
Hoarseness - etiology
Humans
Immunohistochemistry
Middle Aged
Motor Neurons - pathology
Mutation
Nerve Degeneration - pathology
Pedigree
Polymerase Chain Reaction
Superoxide Dismutase - genetics
Vocal Cord Paralysis - etiology
title Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation
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