Abstract
SCA-2 is an autosomal dominant inherited disorder characterized by ataxia, slow saccades, and hyporeflexia. The authors evaluated a patient with a mild balance problem with a SCA-2 allele sized at 33 CAG repeats. The authors then ascertained her 91 year-old mother, who showed disease onset at age 86 with an SCA-2 allele of identical size. Their study indicates that 33 CAG repeats can be pathogenic at the SCA-2 locus, though such an allele may produce an extremely late onset and gradual rate of disease progression.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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Aged
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Aged, 80 and over
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Alleles
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Cerebellum / diagnostic imaging
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Cerebellum / pathology
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Disease Progression
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Electrophoresis, Capillary
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Female
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Genes, Dominant
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Humans
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Magnetic Resonance Imaging
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Male
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Pedigree
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Phenotype
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Polymerase Chain Reaction
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Spinocerebellar Ataxias / diagnosis*
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Spinocerebellar Ataxias / etiology
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Spinocerebellar Ataxias / genetics*
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Tomography, X-Ray Computed
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Trinucleotide Repeat Expansion / genetics*