Abstract
We report a case of familial amyotrophic lateral sclerosis (FALS) with clinical signs of cerebellar and posterior column involvement. The patient's work-up showed a known mutation (E100K) in the gene for Cu/Zn superoxide dismutase 1 (SOD1). Our case illustrates that extramotor symptoms, such as prominent cerebellar signs, can be seen in patients with FALS.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Adult
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Amyotrophic Lateral Sclerosis / diagnosis
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Amyotrophic Lateral Sclerosis / genetics*
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Amyotrophic Lateral Sclerosis / physiopathology*
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Cerebellar Ataxia / diagnosis
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Cerebellar Ataxia / genetics*
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Cerebellar Ataxia / physiopathology*
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Female
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Humans
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Mutation
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Superoxide Dismutase / genetics*
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Superoxide Dismutase-1
Substances
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SOD1 protein, human
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Superoxide Dismutase
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Superoxide Dismutase-1