THAP1 mutations are infrequent in spasmodic dysphonia
β Scribed by Justus L. Groen; Eren Yildirim; Katja Ritz; Frank Baas; Jacobus J. van Hilten; Freerk W. van der Meulen; Ton P. Langeveld; Marina A.J. Tijssen
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 573 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
The disorders of voice and speech in Parkinson's disease (PD) result from involvements in several subsystems including respiration, phonation, articulation, and prosody. [1][2][3] We investigated the feasibility of acoustic measures for the identification of voice and speech disorders in PD, using a quick vocal test consisting of sustained phonation, diadochokinetic task, and running speech. Various traditional and novel acoustic measurements have been designed in order to be gender independent, represent all speech subsystems, reduce the time required for voice investigation, and provide a reliable automated assessment in practice. 4
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The BUB1 gene is a key player in the mitotic spindle checkpoint machinery that monitors proper segregation of sister chromatides during mitosis. It has been suggested that mutations in BUB 1 may disrupt the spindle checkpoint and thereby cause chromosomal instability, which is a hallmark of solid tu
## Abstract Mutations in the __THAP1__ gene on chromosome 8p21βp22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four AmishβMennonite families and in 12 additional probands of different ancestry. We sequenced the __THAP1__ gene in 158