Saccades velocity is strongly influenced by polyglutamine size in spinocerebellar ataxia type 2
C Seifried, L Velázquez-Pérez, N Santos-Falcón, M Abele, U Ziemann, L Almaguer, M Martínez-Gongora, G Sánchez-Cruz, N Canales, M Perez-Gonzalez, M Velázquez-Manresa, B Viebahn, S von Stuckrad-Barre, M Fetter, T Klockgether, G Auburger · Aktuelle Neurologie · 2004 · Heft 09
Bibliografische Angaben
Zusammenfassung
Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant inherited disorder which is clinically characterized by progressive cerebellar ataxia, dysarthria, neuropathy and early slowing of horizontal saccadic eye movements. The underlying mutation is an unstable expansion of a polyglutamine domain within the protein ataxin-2. The prevalence of SCA2 is particulary high in Holguín province, Cuba. Methods: We measured the horizontal saccade velocity of 82 Cuban SCA2 patients with genetically tested polyglutamine repeat size ranging from 34 to 50 (mean 40, SD 3) and disease duration from 1 to 42 year…
