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Early onset autosomal dominant spinocerebellar ataxia with miosis: Four cases
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Paediatrics.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Pediatric Clinic, Östersund Hospital, Sweden.
Pediatric Clinic, Östersund Hospital, Sweden.
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2008 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 12, no 1, 38-40 p.Article in journal (Other academic) Published
Abstract [en]

Previously, at least 29 different forms of autosomal dominant spinocerebellar ataxias (SCAs) have been described. We describe a family with four members through three generations with autosomal dominant ataxia in combination with miosis and hyperreflexia. This family's ataxia does not match any of the previously described SCAs and is probably a novel form of SCA. To continue with the search for the genetic background of this disease, more cases are needed.

Place, publisher, year, edition, pages
London: Saunders , 2008. Vol. 12, no 1, 38-40 p.
Keyword [en]
Spinocerebellar ataxia (SCA), autosomal dominant, miosis, hyperreflexia
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:umu:diva-8962DOI: 10.1016/j.ejpn.2007.03.007PubMedID: 17584505OAI: oai:DiVA.org:umu-8962DiVA: diva2:148633
Available from: 2008-02-22 Created: 2008-02-22 Last updated: 2017-12-14Bibliographically approved

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Publisher's full textPubMedhttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=17584505&dopt=Citation

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