[Genetics of movement disorders-rare but important].

Genetik von Bewegungsstörungen – selten aber wichtig.
Differential diagnostics Dystonia Genetic Parkinson syndromes Molecular diagnostics Next generation sequencing

Journal

Der Nervenarzt
ISSN: 1433-0407
Titre abrégé: Nervenarzt
Pays: Germany
ID NLM: 0400773

Informations de publication

Date de publication:
Feb 2019
Historique:
pubmed: 16 1 2019
medline: 13 9 2019
entrez: 16 1 2019
Statut: ppublish

Résumé

Rare genetic movement disorders are a heterogeneous group of diseases. The causes of many of these rare movement disorders could be resolved due to the progress in molecular genetic diagnostics. This led to a better pathophysiological characterization of rare movement disorders and also to the fact that many phenotypical overlaps could be found between different diseases. The classification of genetic results requires a close cooperation between neurologists and geneticists. Therefore, modern diagnostic procedures cannot replace the clinical classification of genetic movement disorders and the exact patient history. This article provides the reader with an overview of the most important groups of genetic movement disorders. Genetic Parkinson syndromes, dystonia, essential tremor, genetic chorea, cerebellar ataxia and hereditary spastic paraplegia are dealt with in detail. For a better understanding individual genetic terms are explained and differences in molecular genetic diagnostics are presented.

Identifiants

pubmed: 30645659
doi: 10.1007/s00115-018-0659-1
pii: 10.1007/s00115-018-0659-1
doi:

Types de publication

Journal Article Review

Langues

ger

Sous-ensembles de citation

IM

Pagination

197-210

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Auteurs

Stephan Klebe (S)

Klinik für Neurologie, Universitätsmedizin Essen, Hufelandstr. 55, 45147, Essen, Deutschland. Stephan.Klebe@uk-essen.de.

Dagmar Timmann (D)

Klinik für Neurologie, Universitätsmedizin Essen, Hufelandstr. 55, 45147, Essen, Deutschland.

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