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Early onset autosom...
Early onset autosomal dominant spinocerebellar ataxia with miosis : Four cases
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- Timby, Niklas (author)
- Umeå universitet,Pediatrik
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- Stattin, Eva-Lena (author)
- Umeå universitet,Medicinsk och klinisk genetik
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- Kristiansen, Ingela (author)
- Pediatric Clinic, Östersund Hospital, Sweden,Barnneurologi och barnonkologi
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- Eriksson, Urban (author)
- Pediatric Clinic, Östersund Hospital, Sweden
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- Erikson, Anders (author)
- Umeå universitet,Pediatrik
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(creator_code:org_t)
- London : Saunders, 2008
- 2008
- English.
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In: European journal of paediatric neurology. - London : Saunders. - 1090-3798 .- 1532-2130. ; 12:1, s. 38-40
- Related links:
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http://www.ncbi.nlm....
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- Spinocerebellar ataxia (SCA)
- autosomal dominant
- miosis
- hyperreflexia
- MEDICINE
- MEDICIN
- medicin
- Medicine
Publication and Content Type
- vet (subject category)
- art (subject category)
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