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Early onset autosomal dominant spinocerebellar ataxia with miosis: Four cases
Pediatric Clinic, Ă–stersund Hospital. (Barnneurologi och barnonkologi)ORCID iD: 0000-0002-7241-6035
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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 (Refereed) 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
2008. Vol. 12, no 1, 38-40 p.
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Pediatrics
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URN: urn:nbn:se:uu:diva-323322DOI: 10.1016/j.ejpn.2007.03.007OAI: oai:DiVA.org:uu-323322DiVA: diva2:1105759
Available from: 2017-06-05 Created: 2017-06-05 Last updated: 2017-06-07Bibliographically approved

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Kristiansen, Ingela

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