Analysis of ARSG gene and treatment outcome in patients with task specific focal dystonia
| Project/Area Number |
18K16575
|
|---|
| Research Category |
Grant-in-Aid for Early-Career Scientists
|
| Allocation Type | Multi-year Fund |
|---|
| Review Section |
Basic Section 56010:Neurosurgery-related
|
|---|
| Research Institution | Tokyo Women's Medical University |
|---|
Principal Investigator |
Horisawa Shiro 東京女子医科大学, 医学部, 助教 (10746796)
|
|---|
| Project Period (FY) |
2018-04-01 – 2021-03-31
|
| Project Status |
Completed (Fiscal Year 2020)
|
| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
|---|
| Keywords | ジストニア / アリルサルファターゼG遺伝子 |
|---|
| Outline of Final Research Achievements |
We tested 24 patients with task specific focal dystonia for changes in Arylsulfatase G(ARSG) and other dystonia-related genes. 6 patients showed genetic variants indicating Combined Annotation-Dependent Depletion score of 10 or higher. ARSG mutations in exon 5 (Ala180Val) and exon 6 (Arg233His) in 2 patients and THAP1 muation in exon 1 (Gln3Pro) in 1 patient were confirmed. Task specific oral dystonia (Embouchure dystonia) showed DRD mutation in exon 2 (Val200Ala). Task specific focal dystonia can be an initial symptom of hereditary generalized dystonia. Confirmation of genetic mutations related to dystonia is a useful of prognostic prediction and treatment strategy.
|
| Academic Significance and Societal Importance of the Research Achievements |
動作特異的局所ジストニアでは、アリルサルファターゼG遺伝子変異を持つ頻度は低く、その他の遺伝子変異が関与している可能性がある。また、遺伝性全身性ジストニアの初発症状として、動作特異的局所ジストニアが出現することがある。幅広いジストニア関連遺伝子を検索することは、疾患の予後予測や治療方針の検討に有用である。
|
Report
(4 results)
Research Products
(9 results)
