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Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

✍ Scribed by Elena Salvatore; Andrea Varrone; Valeria Sansone; Maria Nolano; Amalia C. Bruni; Anna De Rosa; Lucio Santoro; Sabina Pappatà; Alessandro Filla; Giuseppe De Michele

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

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✦ Synopsis

Abstract

Extrapyramidal signs are a main feature of spinocerebellar ataxia 17 (SCA17). However, the extent of dopaminergic dysfunction and its correlation with parkinsonian signs are not fully understood. In order to define this, we investigated five subjects from three different families with a pathological CAG/CAA expansion in the TATA‐binding protein gene (SCA17), ranging from asymptomatic carrier to patient with advanced disease, by FP‐CIT SPECT. Nigrostriatal dysfunction was present in patients manifesting a fully developed phenotype but not in preclinical and early stages. Dopamine transporter reduction was symmetrical and uniform in caudate and putamen and it correlated with the clinical severity of ataxia. © 2006 Movement Disorder Society

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