{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T14:35:08Z","timestamp":1783953308833,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p><jats:italic>Introduction<\/jats:italic>. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG\/CAA expansion in the<jats:italic>TBP<\/jats:italic>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.<jats:italic>Report of the Family<\/jats:italic>. 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.<jats:italic>Conclusions<\/jats:italic>. 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.<\/jats:p>","DOI":"10.1155\/2014\/643289","type":"journal-article","created":{"date-parts":[[2014,10,2]],"date-time":"2014-10-02T17:02:59Z","timestamp":1412269379000},"page":"1-4","source":"Crossref","is-referenced-by-count":3,"title":["From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8980-8377","authenticated-orcid":true,"given":"Georgios","family":"Koutsis","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Panas","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George P.","family":"Paraskevas","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia M.","family":"Bougea","sequence":"additional","affiliation":[{"name":"1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. 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