From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17

الملخص EN

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.