title: From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17.
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.
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Georgios
authors.identifier: 0000-0002-8980-8377
authors.initials: G
authors.lastname: Koutsis
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Marios
authors.initials: M
authors.lastname: Panas
authors.affiliation: 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: George P
authors.initials: GP
authors.lastname: Paraskevas
authors.affiliation: 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Anastasia M
authors.initials: AM
authors.lastname: Bougea
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Athina
authors.identifier: 0000-0001-6283-2177
authors.initials: A
authors.lastname: Kladi
authors.affiliation: Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Georgia
authors.initials: G
authors.lastname: Karadima
authors.affiliation: 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kapaki