Title |
Unmet Needs in Dystonia: Genetics and Molecular Biology—How Many Dystonias?
|
---|---|
Published in |
Frontiers in Neurology, January 2017
|
DOI | 10.3389/fneur.2016.00241 |
Pubmed ID | |
Authors |
Dineke S. Verbeek, Thomas Gasser |
Abstract |
Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 3 | 38% |
United States | 2 | 25% |
Germany | 1 | 13% |
Switzerland | 1 | 13% |
Unknown | 1 | 13% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 50% |
Scientists | 3 | 38% |
Practitioners (doctors, other healthcare professionals) | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 41 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 20% |
Researcher | 5 | 12% |
Student > Bachelor | 4 | 10% |
Other | 4 | 10% |
Professor | 3 | 7% |
Other | 9 | 22% |
Unknown | 8 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 27% |
Biochemistry, Genetics and Molecular Biology | 4 | 10% |
Engineering | 3 | 7% |
Agricultural and Biological Sciences | 2 | 5% |
Neuroscience | 2 | 5% |
Other | 4 | 10% |
Unknown | 15 | 37% |