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Clinical and Genetics Evaluation of DYT1 and DYT6 Primary Dystonia in China

Author: ChengFuBo
Tutor: FengJiaChun；WanXinHua
School: Jilin University
Course: Clinical
Keywords: Clinical manifestation DYT1/TOR1A mutation DYT6/THAP1 mutation genotype and phenotype primary/pure dystonia
CLC: R746
Type: Master's thesis
Year: 2011
Downloads: 22
Quote: 0
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Abstract


Background:Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 is caused by a mutation in the TORI A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6. The relative frequency and phenotype differences between DYT1 and DYT6 amongst Chinese primary dystonia patients have not been well characterized.Patients and methods:One hundred eleven unrelated Chinese patients with primary dystonia were screened for mutations in TOR1A and THAP1 genes, and correlate this with clinical presentation. Exon 5 of TOR1A and all three exons and exon-intron conjunctions in THAP1 were screened by direct sequencing.Results:Three subjects were found to have the GAG deletion in the TORI A gene, and two patients were detected with THAP1 gene mutations/variations (c.224A>T, c.449A>C). The overall mutation frequency was 4.5% in this cohort with TORI A mutations found in 2.7% and THAP1 mutations found in 1.8%. No mutations were detected in the controls composed of 200 normal Chinese subjects. The clinical presentations of the DYTl cases included onset in the limbs that could progress to the generalized dystonia within several years but without cranial involvement. Whilst in the DYT6 cases, the onset was cranial or cervical and progresses very slowly.Conclusion:The major clinical differences between DYT1 and DYT6 dystonia in China were the cranial involvement in DYT6 and progress to general dystonia within several years in DYT1.

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