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Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family
Author(s) -
França Marcondes C.,
Calcagnotto Maria E.,
Da Costa Jaderson C.,
LopesCendes Iscia
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20893
Subject(s) - spinocerebellar ataxia , atrophy , machado–joseph disease , degenerative disease , ataxia , disease , neuroscience , brainstem , genetics , medicine , psychology , biology , pathology
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