Haplotype analysis in German SCA17 families

SCA17 is a progressive neurodegenerative disease leading to cerebellar ataxia and dementia. Several accessorial symptoms such as Parkinsonism, dystonia, and psychiatric disturbances commonly aggravate to disease course. Genetically, a CAG/CAA expansion in the TATA binding protein (TBP) is expanded in SCA17 patients, leading to an expanded polyglutamine chain in this ubiquitously expressed transcription factor. SCA17 is rare among the dominant spinocerebellar ataxias (ADCA). Overall less than 1% of all ADCA families do account for SCA17 mutations. In Germany, several SCA17 families have been identified. In order…