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To the Editor:
We read the recent article by Le Ber et al. describing a likely hereditary, new syndrome of dystonia and slowly progressive ataxia, for which they coined the term dystonia with cerebellar atrophy (DYTCA).1 Spasmodic dysphonia was the most frequent presenting feature.
A 22-year-old woman with a severe case of spasmodic dysphonia was referred to our movement disorders clinic. She is the youngest member of a family with SCA17 (39/54 CAG repeats in the SCA17/TBP gene) (video). As cited by the authors, we have previously described three other members of this family who all presented with pure focal dystonia before starting to develop ataxia years later.2 A larger study in progress on the phenotypic spectrum of SCA17 revealed focal dystonia in 7/21 (30%) patients (unpublished data).
Although excluded by Le Ber et al. in their patients, SCA17 may be another example of a DYTCA-like syndrome. However, in contrast to the reported DYTCA patients, the rather mild cerebellar atrophy in our family was out of proportion to the marked progression of the ataxia. MRI …
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