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[Genetic aspects of movement disorders of adulthood]
Judit Horvath1, Emmanuelle Ranza2
1Service de neurologie, HUG, 1211 Genève 14, Centre de neurologie, Hôpital de La Tour, Avenue J.-D. Maillard 3, 1217 Meyrin.
Abstract:
Movement disorders of monogenic origin are rare. In case of a specific phenotype, classical targeted sequencing of the gene can be used. When the clinical picture is not well defined, or when there is genetic heterogeneity or a large differential diagnosis, high-throughput sequencing is a useful tool for the analysis of numerous genes simultaneously. To discuss which approach is optimal, a multidisciplinary consultation by a movement disorders specialist and a geneticist is recommended. For some genetic movement disorders there is specific treatment available. The most common movement disorders, such as Parkinson's disease and essential tremor, have probably a complex etiology, including polygenic and environmental factors. Less than 5 % of Parkinsonian patients have a monogenic, hereditary form of the disease.
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