Head tremor at disease onset: an ataxic phenotype of cervical dystonia

• Published in: Journal of neurology Vol. 266; no. 8; pp. 1844 - 1851
• Main Authors: Merola, Aristide, Dwivedi, Alok K., Shaikh, Aasef G., Tareen, Tamour Khan, Da Prat, Gustavo A., Kauffman, Marcelo A., Hampf, Jennie, Mahajan, Abhimanyu, Marsili, Luca, Jankovic, Joseph, Comella, Cynthia L., Berman, Brian D., Perlmutter, Joel S., Jinnah, Hyder A., Espay, Alberto J.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.08.2019; Springer Nature B.V
• Subjects: Age Factors; Aged; Ataxia; Ataxia - diagnosis; Ataxia - epidemiology; Ataxia - physiopathology; Cohort Studies; Dystonia; Female; Gait; Genotype & phenotype; Head; Humans; Male; Medicine; Medicine & Public Health; Middle Aged; Neurology; Neuroradiology; Neurosciences; Original Communication; Phenotype; Phenotypes; Posture; Sex Factors; Torticollis; Torticollis - diagnosis; Torticollis - epidemiology; Torticollis - physiopathology; Tremor; Tremor - diagnosis; Tremor - epidemiology; Tremor - physiopathology; Video Recording - methods; Cerebellum; Ataxia; Dystonia; Tremor; Head tremor
• ISSN: 0340-5354; 1432-1459; 1432-1459
• DOI: 10.1007/s00415-019-09341-w

Background Cervical dystonia (CD) can present with head tremor. It is unclear whether ataxic features are differentially associated with this phenotype at onset of CD. Objectives We sought to evaluate: (1) the demographic features of CD patients with (Tr-CD) and without head tremor (nTr-CD) at onset, and (2) the differential ataxic features between these CD subtypes. Methods For the first objective, we compared demographic data in Tr-CD versus nTr-CD subtypes in the entire cohort of CD subjects enrolled in the Dystonia Coalition Natural History and Biorepository studies ( n  = 1608). For the second objective, we rated the standardized videos from consecutively enrolled Tr-CD subjects ( n  = 50) and age-, gender-, and disease duration-matched nTr-CD subjects ( n  = 50) for ataxia severity scoring using the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS); and for dystonia severity using the Toronto Western Spasmodic Torticollis Rating Scale section-I (TWSTRS) and the Global Dystonia Rating Scale (GDRS). Results Of 1,608 subjects, 18.1% ( n  = 291) were classified as Tr-CD and 81.9% ( n  = 1317) as nTr-CD. The Tr-CD cohort was older, predominantly female, and had longer disease duration than the nTr-CD cohort ( p  = 0.01). Compared to nTr-CD, Tr-CD subjects had worse generalized ataxia, speech, and gait and posture scores. High ataxia severity with low dystonia severity distinguished Tr-CD from nTr-CD with high accuracy (area under the curve, 0.91 (95% CI 0.85–0.97). Conclusions Head tremor at disease onset represents a clinically distinguishable subtype of cervical dystonia affecting predominantly older women, with worse ataxia and milder dystonia than the non-tremulous dystonic phenotype.