Article
Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.
Brain : a journal of neurology - 1 Mar 2002
Pang Joanna T, Giunti Paola, Chamberlain Susan, An Shu F, Vitaliani Roberta, Scaravilli Tomaso, Martinian Lillian, Wood Nicholas W, Scaravilli Francesco, Ansorge Olaf
Abstract excerpt
Spinocerebellar ataxia 2 (SCA2) belongs to the family of autosomal dominant cerebellar ataxias (ADCA), a genetically heterogeneous group of neurodegenerative diseases. The SCA2 gene maps to chromosome 12q24 and the causative mutation involves the expansion of a CAG repeat within the coding region of the gene. Pathologically, SCA2 presents as olivo-ponto-cerebellar atrophy (OPCA). We present the cases of a...
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