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J Neurol. 2019 Aug;266(8):1844-1851. doi: 10.1007/s00415-019-09341-w. Epub 2019 Apr 26.

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

Author information

1
Department of Neurology, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH, USA. merolaae@ucmail.uc.edu.
2
Division of Biostatistics and Epidemiology, Department of Biomedical Sciences, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center (TTUHSC), El Paso, TX, USA.
3
Department of Neurology, University Hospitals and Cleveland VA Medical Center, Case Western Reserve University, Cleveland, OH, USA.
4
Department of Neurology, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, OH, USA.
5
Departamento de Neurologia, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina.
6
Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, and Programa de Medicina de Precision y Genomica Clinica, Instituto de Investigaciones en Medicina Traslacional, Facultad de Ciencias Biomédicas, Universidad Austral-CONICET, Buenos Aires, Argentina.
7
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
8
Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.
9
Rush University Medical Center, Chicago, IL, USA.
10
Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
11
Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St. Louis, MO, USA.
12
Department of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA, USA.

Abstract

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.

KEYWORDS:

Ataxia; Cerebellum; Dystonia; Head tremor; Tremor

PMID:
31028543
PMCID:
PMC6642013
[Available on 2020-08-01]
DOI:
10.1007/s00415-019-09341-w
[Indexed for MEDLINE]

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