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Neurotherapeutics

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01.10.2014 | Review

Inherited Isolated Dystonia: Clinical Genetics and Gene Function

verfasst von: William Dauer

Erschienen in: Neurotherapeutics | Ausgabe 4/2014

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Abstract

Isolated inherited dystonia—formerly referred to as primary dystonia—is characterized by abnormal motor functioning of a grossly normal appearing brain. The disease manifests as abnormal involuntary twisting movements. The absence of overt neuropathological lesions, while intriguing, has made it particularly difficult to unravel the pathogenesis of isolated inherited dystonia. The explosion of genetic techology enabling the identification of the causative gene mutations is transforming our understanding of dystonia pathogenesis, as the molecular, cellular and circuit level consequences of these mutations are identified in experimental systems. Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).

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Titel: Inherited Isolated Dystonia: Clinical Genetics and Gene Function
verfasst von: William Dauer
Publikationsdatum: 01.10.2014
Verlag: Springer US
Erschienen in: Neurotherapeutics / Ausgabe 4/2014
Print ISSN: 1933-7213
Elektronische ISSN: 1878-7479
DOI: https://doi.org/10.1007/s13311-014-0297-7

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