Genetik des Tremors

Leitthema

Zusammenfassung

Hintergrund

Tremor ist ein Symptom vieler Krankheiten, kann aber auch, wie der essenzielle Tremor, eine eigene Krankheit darstellen.

Fragestellung

Genetik des essenziellen Tremors und Differenzialdiagnostik monogener Krankheiten mit dem Symptom Tremor.

Material und Methoden

Literaturrecherche und Recherche klinisch-genetischer Datenbanken (OMIM, GeneReviews, MDSGene, Leitlinien der DGN).

Ergebnisse

Trotz großer Studien mit adäquater statistischer Aussagekraft ist die Genetik des essenziellen Tremors bislang ungeklärt. Tremor ist ein Symptom mit differenzialdiagnostischer Bedeutung bei vielen Bewegungsstörungen. Ein leichter Tremor wird möglicherweise häufig bei der Beschreibung von Bewegungsstörungen nicht berichtet.

Schlussfolgerungen

Um Fortschritte in der Genetik des essenziellen Tremors zu erzielen, wird eine detailliertere Beschreibung des Phänotyps benötigt. Hierdurch wird eine Stratifikation in phänotypisch definierte Subgruppen möglich. Tremor sollte bei der Untersuchung und Beschreibung von Bewegungsstörungen immer erfasst werden, auch dann wenn er kein Leitsymptom ist. Tremor kann in der Differenzialdiagnose hereditärer Dystonien, hereditärer Ataxien, spastischer Spinalparalysen und weiterer Bewegungsstörungen wichtig sein.

Schlüsselwörter

Essenzieller Tremor Monogener Tremor Hereditäre Dystonien Hereditäre Ataxien Spastische Spinalparalysen 

Genetics of tremor

Abstract

Background

Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor.

Objective

The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor.

Material and methods

Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines.

Results

The genetics of essential tremor remain unresolved in spite of large, adequately powered studies. Tremor is a symptom of differential diagnostic value in many movement disorders. A slight tremor might have been missed or not reported in many descriptions of movement disorders.

Conclusion

Progress in the genetics of essential tremor probably requires a more detailed phenotyping allowing stratification into phenotypically defined subgroups. Tremor should always be included in the examination and description of movement disorders even if tremor is not a cardinal symptom. Tremor might be helpful in the differential diagnosis of hereditary dystonia, hereditary ataxia, spastic paraplegia and other movement disorders.

Keywords

Essential tremor Hereditary dystonia Hereditary ataxia Monogenic tremor Spastic spinal paralysis 

Notes

Einhaltung ethischer Richtlinien

Interessenkonflikt

G. Kuhlenbäumer und F. Hopfner geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Copyright information

© Springer Medizin Verlag GmbH, ein Teil von Springer Nature 2018

Authors and Affiliations

  1. 1.Klinik für Neurologie, Universitätsklinikum Schleswig-Holstein, Campus KielChristian-Albrechts-Universität KielKielDeutschland

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