title: From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.
abstract: Spinocerebellar ataxias are a group of rare and heterogeneous autosomal dominant disorders characterized by progressive ataxia and other features. Spinocerebellar ataxia 17 (SCA17) is one of the 32 subtypes described to date and is secondary to CAG/CAA repeat expansion in the gene coding for the TATA-box binding protein (TBP). SCA17 is clinically heterogeneous and typically presents with slowly evolving ataxia, dysarthria, dementia, depression, and other movement disorders such as chorea. More than 41 CAG/CAA repeats are considered diagnostic of SCA17, with more than 49 being associated with full penetrance. We report one patient presenting with isolated rapidly evolving ataxia who was found to have 44 CAG/CAA repeats in the TBP gene. This suggests that, while SCA17 typically slowly progresses over years, its repertoire of presentations should be expanded to include rapidly progressive isolated ataxia resembling paraneoplastic disorders or prion disease.
authors.affiliation: Center for Neurological Restoration, Cleveland Clinic Foundation, 9500 Euclid Avenue/U20, Cleveland, OH 44195, USA. doc_raja_mehanna@yahoo.com
authors.forename: R
authors.initials: R
authors.lastname: Mehanna
authors.forename: I
authors.initials: I
authors.lastname: Itin
mesh_terms: D000368:Aged; D005260:Female; D005684:Gait / Q000502:physiology*; D006801:Humans; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000503:physiopathology*; D013997:Time Factors; D016138:Walking / Q000502:physiology*