onr:"swepub:oai:DiVA.org:esh-7508"
Search: onr:"swepub:oai:DiVA.org:esh-7508" > Genotype-phenotype ...
- 1 of 1
- Previous record
- Next record
- To hitlist
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03851naa a2200517 4500 | |
| 001 | oai:DiVA.org:esh-7508 | |
| 003 | SwePub | |
| 008 | 190522s2013 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:128448038 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-75082 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1284480382 URI |
| 024 | 7 | a https://doi.org/10.4161/pri.272602 DOI |
| 040 | a (SwePub)eshd (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Paucar, Martinu Karolinska Institutet,Karolinska institutet4 aut |
| 245 | 1 0 | a Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. |
| 264 | 1 | b Informa UK Limited,c 2013 |
| 338 | a print2 rdacarrier | |
| 520 | a A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected subjects had chorea which was initially attributed to Huntington's disease (HD). Following the exclusion of HD, this phenotype was labeled Huntington disease-like 1 (HDL1). Here, we provide an update on the Swedish 8-OPRI family, describe the clinical features of one of its affected members with video-recordings, compare the four 8-OPRI families and study the effect of PRNP polymorphic codon 129 and gender on phenotype. Surprisingly, the Swedish kindred displayed the longest survival of all of the 8-OPRI families with a mean of 15.1 years from onset of symptoms. Subjects with PRNP polymorphic codon 129M in the mutated allele had significantly earlier age of onset, longer survival and earlier age of death than 129V subjects. Homozygous 129MM had earlier age of onset than 129VV. Females had a significantly earlier age of onset and earlier age of death than males. Up to 50% of variability in age of onset was conferred by the combined effect of PRNP polymorphic codon 129 and gender. An inverse correlation between early age of onset and long survival was found for this mutation. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Omvårdnad0 (SwePub)303052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Nursing0 (SwePub)303052 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 653 | a Huntington disease-like 1 | |
| 653 | a Huntington’s disease | |
| 653 | a PRNP | |
| 653 | a PRNP polymorphic codon 129 | |
| 653 | a base pair insertions (BPI) | |
| 653 | a inherited prion disease (IPD) | |
| 653 | a octapeptide repeat insertions (OPRI) | |
| 700 | 1 | a Xiang, Fengqingu Karolinska Institutet4 aut |
| 700 | 1 | a Moore, Richard4 aut |
| 700 | 1 | a Walker, Ruth4 aut |
| 700 | 1 | a Winnberg, Elisabeth4 aut |
| 700 | 1 | a Svenningsson, Peru Karolinska Institutet4 aut |
| 710 | 2 | a Karolinska Institutetb Karolinska institutet4 org |
| 773 | 0 | t Priond : Informa UK Limitedg 7:6, s. 501-10q 7:6<501-10x 1933-6896x 1933-690X |
| 856 | 4 | u https://www.tandfonline.com/doi/pdf/10.4161/pri.27260?needAccess=true |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:esh:diva-7508 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:128448038 |
| 856 | 4 8 | u https://doi.org/10.4161/pri.27260 |
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Paucar, Martin
- Xiang, Fengqing
- Moore, Richard
- Walker, Ruth
- Winnberg, Elisab ...
- Svenningsson, Pe ...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Health Sciences
- and Nursing
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Neurology
- Articles in the publication
- Prion
- By the university
- Marie Cederschiöld högskola
- Karolinska Institutet
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
