Journal Article (Review Article)

DZNE-2020-05288

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

Verbeek, D. S. ; Gasser, T. (Last author)DZNE*

2016
Frontiers Research Foundation Lausanne

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Please use a persistent id in citations: doi:10.3389/fneur.2016.00241

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.

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser 1)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2016

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Database coverage:
; ; ; ; Clarivate Analytics Master Journal List ; DOAJ Seal ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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