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Neurotherapeutics. 2014 Oct;11(4):807-16. doi: 10.1007/s13311-014-0297-7.

Inherited isolated dystonia: clinical genetics and gene function.

Author information

1
Department of Neurology, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, 48109-220, USA, dauer@med.umich.edu.

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).

PMID:
25155315
PMCID:
PMC4391387
DOI:
10.1007/s13311-014-0297-7
[Indexed for MEDLINE]
Free PMC Article

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