[Genetics of movement disorders-rare but important]. / Genetik von Bewegungsstörungen selten aber wichtig.
Nervenarzt
; 90(2): 197-210, 2019 Feb.
Article
em De
| MEDLINE
| ID: mdl-30645659
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Transtornos dos Movimentos
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
De
Ano de publicação:
2019
Tipo de documento:
Article