Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17

Movement Disorders : Official Journal of the Movement Disorder Society
Elena SalvatoreGiuseppe De Michele

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.

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Citations

Oct 31, 2007·European Journal of Nuclear Medicine and Molecular Imaging·Jan Booij, Paul Kemp
Nov 16, 2007·Journal of Neurology·Elena SalvatoreAlessandro Filla
Jan 25, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Yun Ju Christine SongGlenda Margaret Halliday
Mar 4, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Judith van GaalenBart P van de Warrenburg
Apr 24, 2014·International Journal of Clinical Practice·P BorghammerA Morsing
Dec 18, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Karen M DohertyAndrew J Lees
Jun 13, 2015·Neurology·Roderick P P W M MaasBart P C van de Warrenburg
Nov 20, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Pablo AguiarJulia Cortés
Jun 2, 2012·Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine·Kathrin BrockmannLudger Schöls
May 26, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Federico Paolini PaolettiNicola Tambasco

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