Zusammenfassung
Die vererbten Bewegungsstörungen umfassen eine Gruppe genetisch determinierter Erkrankungen, die klinisch durch eine fehlende Kontrolle von Bewegungsabläufen, Gleichgewichtsstörungen und/ oder einer Spastik der Muskulatur charakterisiert sind. Die Betroffenen sind behindert, und ihre Lebensqualität ist stark eingeschränkt. Häufig ist die Lebenserwartung verkürzt. Für viele dieser Erkrankungen einschließlich der Huntington- Krankheit, der Wilson-Krankheit, der Spinozerebellären Ataxien, rezessiven Ataxien, Hereditären Spastischen Paraparesen und der Hereditären Dystonien wurden eine oder mehrere genetische Ursachen identifiziert. Aufgrund ihrer charakteristischen molekularen und biochemischen Pathogenese haben diese seltenen Erkrankungen oft Modellcharakter für häufigere Erkrankungen, z. B. die Alzheimer-Krankheit oder die Parkinson-Krankheit. Innerhalb des vom Bundesministerium für Bildung und Forschung (BMBF) geförderten Netzwerks "Hereditäre Bewegungsstörungen (German Network of Hereditary Movement Disorders, GeNeMove)" wird die klinischwissenschaftliche Forschung auf dem Gebiet der seltenen erblichen Bewegungsstörungen koordiniert und die Kooperation der einzelnen deutschen Fachzentren verbessert. Dieses Projekt umfasst die standardisierte Dokumentation der Erkrankungssymptome und der Erkrankungsverläufe, die Entwicklung von Diagnostik- und Therapieleitlinien, die genetische Diagnostik und Forschung sowie die Asservierung von Proben für DNA-, Gewebe-, Liquorund Blutmaterialbanken.
Abstract
Hereditary movement disorders comprise a group of genetically defined diseases characterized by an impaired control of movements, ataxia and/or spasticity. Affected individuals are disabled, their quality of life significantly reduced and their life expectancy shortened. One or more genetic causes have been identified for many of these diseases, including Huntington’s disease, Wilson’s disease, spinocerebellar ataxias, recessive ataxias, hereditary spastic paraplegia and hereditary dystonias. Due to their characteristic molecular and biochemical pathogenesis, these rare diseases can often serve as models for more common disorders such as Alzheimer’s disease or Parkinson’s disease. The primary tasks of the German Network of Hereditary Movement Disorders (GeNe- Move), funded by the German Ministry for Education and Research (BMBF), are to co-ordinate basic scientific research and clinical research into rare hereditary movement disorders and to improve the cooperation between the German centers specializing in hereditary movement disorders. For each of the diseases in its scope, GeNeMove works at creating standardized documentation of symptoms and the disease’s progressive course over time; developing rating scales for clinical examinations and guidelines for therapy; improving genetic testing; fostering genetic research; and collecting samples of DNA, tissue, CSF and blood from sufferers of the disease for biobanks.
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Schulz, J.B., für das German Network of Hereditary Movement Disorders Ge Ne Move, Universität Göttingen, BRD. Hereditäre Bewegungsstörungen. Bundesgesundheitsbl. 50, 1524–1530 (2007). https://doi.org/10.1007/s00103-007-0387-3
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DOI: https://doi.org/10.1007/s00103-007-0387-3
Schlüsselwörter
- German Network of Hereditary Movement Disorders (GeNeMove)
- Friedreich-Ataxie
- Spinozerebelläre Ataxien
- Wilson-Krankheit
- Huntington-Krankheit
- Hereditäre spastische Paraparesen
- Hereditäre Dystonien