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Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family

✍ Scribed by Marcondes C. França Jr; Maria E. Calcagnotto; Jaderson C. Da Costa; Iscia Lopes-Cendes

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
49 KB
Volume
21
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal‐dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second‐degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. © 2006 Movement Disorder Society

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