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Verfasst von:Rossi, Malco [VerfasserIn]   i
 Balint, Bettina [VerfasserIn]   i
Titel:Genetic dystonia-ataxia syndromes
Titelzusatz:clinical spectrum, diagnostic approach, and treatment options
Verf.angabe:Malco Rossi, MD, PhD, Bettina Balint, MD, Patricio Millar Vernetti, MD, Kailash P. Bhatia, MD, and Marcelo Merello, MD, PhD
E-Jahr:2018
Jahr:3 July 2018
Umfang:10 S.
Fussnoten:Gesehen am 16.04.2019
Titel Quelle:Enthalten in: Movement disorders clinical practice
Ort Quelle:New York, NY : Wiley, 2014
Jahr Quelle:2018
Band/Heft Quelle:5(2018), 4, Seite 373-382
ISSN Quelle:2330-1619
Abstract:Background Dystonia and ataxia are manifestations of numerous disorders, and indeed, an ever-expanding spectrum of genes causing diseases that encompass dystonia and ataxia are discovered with the advances of genetic techniques. In recent years, a pathophysiological link between both clinical features and the role of the cerebellum in the genesis of dystonia, in some cases, has been proposed. In clinical practice, the genetic diagnosis of dystonia-ataxia syndromes is a major issue for genetic counseling, prognosis and, occasionally, specific treatment. Methods For this pragmatic and educational review, we conducted a comprehensive and structured literature search in Pubmed, OMIM, and GeneReviews using the key words “dystonia” and “ataxia” to identify those genetic diseases that may combine dystonia with ataxia. Results There are a plethora of genetic diseases causing dystonia and ataxia. We propose a series of clinico-radiological algorithms to guide their differential diagnosis depending on the age of onset, additional neurological or systemic features, and imaging findings. We suggest a sequential diagnostic approach to dystonia-ataxia syndromes. We briefly highlight the pathophysiological links between dystonia and ataxia and conclude with a review of specific treatment implications. Conclusions The clinical approach presented in this review is intended to improve the diagnostic success of clinicians when faced with patients with dystonia-ataxia syndromes.
DOI:doi:10.1002/mdc3.12635
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1002/mdc3.12635
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12635
 DOI: https://doi.org/10.1002/mdc3.12635
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:ataxia
 diagnosis
 dystonia
 genetics
 movement disorders
K10plus-PPN:1663290717
Verknüpfungen:→ Zeitschrift

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