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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
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2006 (English)In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 66, no 6, 839-844 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). METHODS: The authors performed a genome-wide linkage analysis of a four-generation, 50-member Scandinavian family in which five individuals were diagnosed with ALS and nine with FTD. Linkage calculations assuming autosomal dominant inheritance of a single neurodegenerative disease manifesting as either ALS or FTD with age-dependent penetrance were performed. Further analyses for ALS alone and FTD alone were performed. A parametric logarithm of odds (lod) score of 2.0 or greater was required for further study of a potential locus and crossover (haplotype) analysis. RESULTS: A new ALS-FTD locus was identified between markers D9s1870 and D9s1791 on human chromosome 9p21.3-p13.3. A maximum multipoint lod score of 3.00 was obtained between markers D9s1121 and D9s2154. Crossover analysis indicates this region covers approximately 21.8 cM, or 14Mb. CONCLUSIONS: A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD.

Place, publisher, year, edition, pages
2006. Vol. 66, no 6, 839-844 p.
National Category
Medical and Health Sciences Neurology
Research subject
Neurology
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URN: urn:nbn:se:oru:diva-11106DOI: 10.1212/01.wnl.0000200048.53766.b4PubMedID: 16421333OAI: oai:DiVA.org:oru-11106DiVA: diva2:324932
Available from: 2010-06-16 Created: 2010-06-16 Last updated: 2017-12-12Bibliographically approved

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Gunnarsson, L.-G.

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