A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature.

Abstract excerpt

Pathogenic mutations in TDP2, encoding tyrosyl DNA phosphodiesterase 2, cause Spinocerebellar Ataxia autosomal recessive 23 (SCAR23). It is a rare autosomal recessive disorder and mainly has been reported in the European population. Thus far, merely eight patients harboring four TDP2 variants have been reported in the literature. In this study, a novel pathogenic variant (NM_016614: c.4G > T, p.Glu2*) was...

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