Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?
✍ Scribed by Mikko Kuoppamäki; Paula Giunti; Niall Quinn; Nicholas W. Wood; Kailash P. Bhatia
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 139 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
We describe 5 cases with a rare combination of young‐onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first‐degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first‐degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young‐onset spinocerebellar ataxia. © Movement Disorder Society