PREDOMINANT DYSTONIA WITH MARKED CEREBELLAR ATROPHY: A RARE PHENOTYPE IN FAMILIAL DYSTONIA
- 12 June 2007
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 68 (24) , 2157-2158
- https://doi.org/10.1212/01.wnl.0000269478.69285.7e
Abstract
A 22-year-old woman with a severe case of spasmodic dysphonia was referred to our movement disorders clinic. She is the youngest member of a family with SCA17 (39/54 CAG repeats in the SCA17/TBP gene) (video). As cited by the authors, we have previously described three other members of this family who all presented with pure focal dystonia before starting to develop ataxia years later.2 A larger study in progress on the phenotypic spectrum of SCA17 revealed focal dystonia in 7/21 (30%) patients (unpublished data).This publication has 4 references indexed in Scilit:
- Predominant dystonia with marked cerebellar atrophyNeurology, 2006
- Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)Brain, 2006
- Putamen dopamine transporter and glucose metabolism are reduced in SCA17Annals of Neurology, 2005
- Focal dystonia as a presenting sign of spinocerebellar ataxia 17Movement Disorders, 2003