Abstract
Spinocerebellar ataxia type 7 (SCA 7) is a rare autosomal dominant neurodegenerative disorder (ADCA) caused by expansion of a highly unstable CAG repeat. Clinical features including progressive cerebellar, retinal degeneration and pyramidal signs. We report a patient with SCA 7 diagnosis revealed by progressive cerebellar ataxia and writer's cramp.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Ataxin-7
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Botulinum Toxins, Type A / therapeutic use
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Dystonic Disorders / etiology*
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Humans
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Male
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Nerve Tissue Proteins / genetics
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Neuromuscular Agents / therapeutic use
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Spinocerebellar Ataxias / complications*
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Spinocerebellar Ataxias / drug therapy
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Spinocerebellar Ataxias / genetics
Substances
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ATXN7 protein, human
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Ataxin-7
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Nerve Tissue Proteins
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Neuromuscular Agents
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Botulinum Toxins, Type A