The role of DYT1 in primary torsion dystonia in Europe

Citation
Em. Valente et al., The role of DYT1 in primary torsion dystonia in Europe, BRAIN, 121, 1998, pp. 2335-2339
Citations number
16
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
BRAIN
ISSN journal
00068950 → ACNP
Volume
121
Year of publication
1998
Part
12
Pages
2335 - 2339
Database
ISI
SICI code
0006-8950(199812)121:<2335:TRODIP>2.0.ZU;2-3
Abstract
Primary torsion dystonia (PTD) is a clinically and genetically heterogeneou s movement disorder. DYT1 on chromosome 9q34 was the first PTD gene to be m apped. A 3-bp (GAG) deletion in this gene was reported to account for almos t all early limb-onset generalized PTD, No relationship has been found with DYT1 in patients with prominent craniocervical involvement. To elucidate t he DYT1-associated phenotype, we analysed the DYT1 mutation in 150 PTD pati ents, either sporadic or index cases from small PTD families. Twenty-two pa tients were positive for the GAG deletion in the DYT1 gene. Fifteen of them presented with the typical DYT1 phenotype (early, limb-onset generalized d ystonia without spread to craniocervical muscles), four had limb-onset dyst onia with spread to craniocervical muscles, two patients had arm-onset segm ental dystonia and one had focal right-arm dystonia, One-hundred and twenty -eight patients were negative for the DYT1 mutation. Forty-six of them had segmental dystonia and 59 had focal dystonia, The other 23 patients present ed with generalized dystonia, either with craniocervical involvement (13 pa tients) or without spread to the craniocervical region (typical DYT1 phenot ype-10 patients). These data confirm the importance of the GAG deletion in European cases of PTD, and indicate phenotypic and genotypic heterogeneity.