Progression of corticospinal tract dysfunction in pre-ataxic spinocerebellar ataxia type 2: a two-years follow-up TMS study

Spinocerebellar ataxia type 2 (SCA2) is a severe and progressive autosomal dominant cerebellar ataxia caused by a dynamic mutation in the ATXN2 gene, consisting of an abnormal expansion of cytosine-adenine-guanine (CAG) triplets in the first codon of the gene, and leading to expression of long polyglutamine (PolyQ) stretches in the ataxin-2 protein (Auburger, 2012; Pulst et al., 1996). This protein seems to have global effects on mRNA metabolism, as well as on endocytosis, calcium signaling and control of metabolism and energy balance.

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