title: Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?
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.
authors.affiliation: National Hospital for Neurology and Neurosurgery, Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Mikko
authors.initials: M
authors.lastname: Kuoppamäki
authors.forename: Paula
authors.initials: P
authors.lastname: Giunti
authors.forename: Niall
authors.initials: N
authors.lastname: Quinn
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000175:diagnosis*; D014103:Torticollis / Q000175:diagnosis*; D014202:Tremor / Q000175:diagnosis*