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Current Neurology and Neuroscience Reports
Erschienen in: Current Neurology and Neuroscience Reports 3/2010

01.05.2010

Genetics of Primary Torsion Dystonia

verfasst von: Norbert Brüggemann, Christine Klein

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 3/2010

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Abstract

Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood–brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. Further, we review current knowledge regarding genetic modifiers and susceptibility factors. Because recognizing and diagnosing monogenic dystonias have important implications for patients and their families with regard to counseling, prognosis, and treatment, we highlight clinical “red flags” of individual subtypes and review guidelines for genetic testing.
Glossar
Allele
One of a series of different forms of a gene
Haploinsufficiency
Only a single functional copy of the gene is available, mostly leading to a lack of adequate protein (gene product) levels
Linkage analysis
Common method for the search for disease-causing genes
Gene locus
Specific location of a gene on a chromosome
Penetrance
Describes the proportion of mutation carriers who develop a distinct phenotype
Expressivity
Phenotypic variations in individuals carrying a distinct genotype
Haplotype
Combination of alleles at multiple gene loci transmitted together on the same chromosome
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Metadaten
Titel
Genetics of Primary Torsion Dystonia
verfasst von
Norbert Brüggemann
Christine Klein
Publikationsdatum
01.05.2010
Verlag
Current Science Inc.
Erschienen in
Current Neurology and Neuroscience Reports / Ausgabe 3/2010
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-010-0107-5

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