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Article

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

1 Oct 2019

Abstract excerpt

BACKGROUND AND PURPOSE: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. METHODS: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for...

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PMID: 31571321
DOI: 10.1111/ene.14094

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