Article
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease.
Neurology - 22 Aug 2000
Fernandez M, McClain M E, Martinez R A, Snow K, Lipe H, Ravits J, Bird T D, La Spada A R
Abstract excerpt
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...
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