A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia

Citation
A. Munchau et al., A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia, MOVEMENT D, 15(5), 2000, pp. 954-959
Citations number
27
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
MOVEMENT DISORDERS
ISSN journal
08853185 → ACNP
Volume
15
Issue
5
Year of publication
2000
Pages
954 - 959
Database
ISI
SICI code
0885-3185(200009)15:5<954:AYFWAC>2.0.ZU;2-A
Abstract
Although a family history is described in approximately 20% of patients, la rge families with adult-onset craniocervical primary (idiopathic) torsion d ystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were d iagnosed as definite PTD and one as probable PTD. Mean age at onset was 29 years (range, 19-40 yrs). The phenotype was characterized by adult-onset cr anio-cervical dystonia in all affected cases. A few cases had additional vo ice tremor and/or postural arm tremor. The GAG deletion in the DYT1 gene wa s excluded in the index case. Linkage analysis was performed between the di sease and several marker loci spanning DYT6 and DYT7 regions, and haplotype s were reconstructed in all subjects. Although linkage analysis was not com pletely informative, reconstructed haplotypes excluded linkage between the disease and either DYT6 or DYT7. This report confirms that familial cranio- cervical dystonia is genetically heterogeneous, and further studies of othe r PTD families with similar clinical features are needed to identify other new genes.