DYT1 mutation in Japanese patients with primary torsion dystonia
- 1 March 2001
- journal article
- molecular neuroscience
- Published by Wolters Kluwer Health in NeuroReport
- Vol. 12 (4) , 793-795
- https://doi.org/10.1097/00001756-200103260-00035
Abstract
A GAG deletion at position 946 in the DYT1 gene has been identified as one of the gene mutations responsible for autosomal dominant primary torsion dystonia. We examined 178 Japanese patients with various forms of dystonia, and found the mutation in six patients (3.4%) from three families. Five of them had early clinical onset (before age 12) with initial involvement of a limb. To our knowledge, this is the first report of the frequency and the clinical features of DYT1 mutation in oriental patients, and the clinical presentation of the mutation in these patients was similar to that of Jewish or non-Jewish Caucasian patients.Keywords
This publication has 11 references indexed in Scilit:
- TorsinA accumulation in Lewy bodies in sporadic Parkinson’s diseaseBrain Research, 2000
- The DYT1 phenotype and guidelines for diagnostic testingNeurology, 2000
- Frequency of the DYT1 mutation in primary torsion dystonia without family history.Archives of Neurology, 2000
- Roller coaster headache and subdural hematomaNeurology, 2000
- GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in GermanyMovement Disorders, 1999
- DYT1 mutation in French families with idiopathic torsion dystonia.Brain, 1999
- Genetic Testing for Early-Onset Torsion Dystonia (DYT1): Introduction of a Simple Screening Method, Experiences from Testing of a Large Patient Cohort, and Ethical AspectsGenetic Testing, 1999
- DystoniaCurrent Opinion in Neurology, 1998
- TolcaponeNeurology, 1998
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNature Genetics, 1997