Chapter title |
The spinocerebellar ataxias: clinical aspects and molecular genetics.
|
---|---|
Chapter number | 27 |
Book title |
Neurodegenerative Diseases
|
Published in |
Advances in experimental medicine and biology, March 2012
|
DOI | 10.1007/978-1-4614-0653-2_27 |
Pubmed ID | |
Book ISBNs |
978-1-4614-0652-5, 978-1-4614-0653-2
|
Authors |
Matilla-Dueñas A, Corral-Juan M, Volpini V, Sanchez I, Antoni Matilla-Dueñas, Marc Corral-Juan, Victor Volpini, Ivelisse Sanchez |
Abstract |
Spinocerebellar ataxias (SCAs) are a highly heterogeneous group of inherited neurological disorders, based on clinical characterization alone with variable degrees of cerebellar ataxia often accompanied by additional cerebellar and noncerebellar symptoms which in most cases defy differentiation. Molecular causative deficits in at least 31 genes underlie the clinical symptoms in the SCAs by triggering cerebellar and, very frequently, brain stem dysfunction. The identification of the causative molecular deficits enables the molecular diagnosis of the different SCA subtypes and facilitates genetic counselling. Recent scientific advances are shedding light into developing therapeutic strategies. The scope of this chapter is to provide updated details of the spinocerebellar ataxias with particular emphasis on those aspects aimed at facilitating the clinical and genetic diagnoses. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 3 | 4% |
Malaysia | 1 | 1% |
Chile | 1 | 1% |
South Africa | 1 | 1% |
Unknown | 71 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 13 | 17% |
Student > Master | 13 | 17% |
Student > Ph. D. Student | 12 | 16% |
Student > Bachelor | 9 | 12% |
Professor > Associate Professor | 6 | 8% |
Other | 14 | 18% |
Unknown | 10 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 19 | 25% |
Agricultural and Biological Sciences | 17 | 22% |
Biochemistry, Genetics and Molecular Biology | 15 | 19% |
Neuroscience | 12 | 16% |
Nursing and Health Professions | 1 | 1% |
Other | 0 | 0% |
Unknown | 13 | 17% |