Koutsis Georgios, Panas Marios, Paraskevas George P, Bougea Anastasia M, Kladi Athina, Karadima Georgia, Kapaki Elisabeth
Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
1st Department of Neurology, University of Athens Medical School, Eginition Hospital, 74 Vas. Sophias Avenue, 11528 Athens, Greece.
Case Rep Neurol Med. 2014;2014:643289. doi: 10.1155/2014/643289. Epub 2014 Oct 2.
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.
引言。脊髓小脑共济失调17型（SCA 17）是一种罕见的常染色体显性小脑共济失调（ADCA），由TBP基因中的CAG/CAA重复序列扩增引起，仅在少数国家有报道。它是一种非常异质性的ADCA，其特征为共济失调、认知衰退、精神症状和不自主运动，部分患者表现出亨廷顿舞蹈病（HD）的表型模拟。SCA 17的扩增在亲子传递过程中是稳定的，并且已有家族内表型同质性的报道。然而，在家族中也观察到了显著的表型变异性。家族报告。我们目前报告一个希腊家族，其SCA 17位点存在54次重复的病理性扩增，表现出显著的表型变异性。在3名受影响成员中，一名表现出HD表型模拟；一名患有进行性共济失调、痴呆、舞蹈症、肌张力障碍和癫痫，另一名患有轻度缓慢进展性共济失调并伴有轻微认知和情感症状。结论。这是在希腊发现的首个SCA 17家族，凸显了这种罕见疾病的多面性，即使在同一家族中也是如此。
