From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17. (2nd October 2014)

• Record Type: Journal Article
• Authors: Koutsis, Georgios; Panas, Marios; Paraskevas, George P.; Bougea, Anastasia M.; Kladi, Athina; Karadima, Georgia; Kapaki, Elisabeth
• Other Names: Koide Reiji Academic Editor.
• Is Part Of: Case reports in neurological medicine. Volume 2014(2014)
• Publication Date: 2014-10-02
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; Neurology; Nervous System Diseases; Nervous system -- Diseases; Neurology; Electronic journals; Periodicals; Periodicals; 616.8
• DOI: 10.1155/2014/643289
• Languages: English
• ISSNs: 2090-6676

Abstract

Abstract : Introduction . Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family . We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions . This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family.