Genetic and clinical features of primary torsion dystonia
Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2011-05-01
|
| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996110004055 |
| _version_ | 1818648969423618048 |
|---|---|
| author | Laurie J. Ozelius Susan B. Bressman |
| author_facet | Laurie J. Ozelius Susan B. Bressman |
| author_sort | Laurie J. Ozelius |
| collection | DOAJ |
| description | Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled “Advances in dystonia”. |
| first_indexed | 2024-12-17T01:26:52Z |
| format | Article |
| id | doaj.art-637964ee5aa145e4925435be1810bb8b |
| institution | Directory Open Access Journal |
| issn | 1095-953X |
| language | English |
| last_indexed | 2024-12-17T01:26:52Z |
| publishDate | 2011-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Neurobiology of Disease |
| spelling | doaj.art-637964ee5aa145e4925435be1810bb8b2022-12-21T22:08:40ZengElsevierNeurobiology of Disease1095-953X2011-05-01422127135Genetic and clinical features of primary torsion dystoniaLaurie J. Ozelius0Susan B. Bressman1Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, One Gustave L Levy Pl, Box 1498 New York, NY 10029, USA; Corresponding author. Fax: +1 212 849 2508.Department of Neurology, Beth Israel Medical Center, 10 Union Square East, Suite 5J, New York, NY 10003, USAPrimary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled “Advances in dystonia”.http://www.sciencedirect.com/science/article/pii/S0969996110004055Primary torsion dystoniaEarly onset dystoniaFocal dystoniaTOR1ATHAP1DYT7 |
| spellingShingle | Laurie J. Ozelius Susan B. Bressman Genetic and clinical features of primary torsion dystonia Neurobiology of Disease Primary torsion dystonia Early onset dystonia Focal dystonia TOR1A THAP1 DYT7 |
| title | Genetic and clinical features of primary torsion dystonia |
| title_full | Genetic and clinical features of primary torsion dystonia |
| title_fullStr | Genetic and clinical features of primary torsion dystonia |
| title_full_unstemmed | Genetic and clinical features of primary torsion dystonia |
| title_short | Genetic and clinical features of primary torsion dystonia |
| title_sort | genetic and clinical features of primary torsion dystonia |
| topic | Primary torsion dystonia Early onset dystonia Focal dystonia TOR1A THAP1 DYT7 |
| url | http://www.sciencedirect.com/science/article/pii/S0969996110004055 |
| work_keys_str_mv | AT lauriejozelius geneticandclinicalfeaturesofprimarytorsiondystonia AT susanbbressman geneticandclinicalfeaturesofprimarytorsiondystonia |