| Title |
Recent Advances in the Genetics of Dystonia
|
|---|---|
| Published in |
Current Neurology and Neuroscience Reports, June 2014
|
| DOI | 10.1007/s11910-014-0462-8 |
| Pubmed ID | |
| Authors |
Jianfeng Xiao, Satya R. Vemula, Mark S. LeDoux |
| Abstract |
Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both." Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several "novel" genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 3% |
| United States | 1 | 3% |
| Unknown | 36 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 12 | 32% |
| Student > Ph. D. Student | 4 | 11% |
| Professor > Associate Professor | 4 | 11% |
| Student > Doctoral Student | 3 | 8% |
| Other | 3 | 8% |
| Other | 7 | 18% |
| Unknown | 5 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 32% |
| Agricultural and Biological Sciences | 9 | 24% |
| Neuroscience | 7 | 18% |
| Biochemistry, Genetics and Molecular Biology | 4 | 11% |
| Immunology and Microbiology | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 5 | 13% |
Attention Score in Context
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#17,728,060
of 22,765,347 outputs
Outputs from Current Neurology and Neuroscience Reports
#734
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#155,677
of 228,061 outputs
Outputs of similar age from Current Neurology and Neuroscience Reports
#13
of 17 outputs
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