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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.

Morita, M ; Al-Chalabi, A ; Andersen, P M ; Hosler, B ; Sapp, P ; Englund, Elisabet LU ; Mitchell, J E ; Habgood, J J ; de Belleroche, J and Xi, J , et al. (2006) In Neurology 66(6). p.839-844
Abstract
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... (More)
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. (Less)
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Contribution to journal
publication status
published
subject
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Neurology
volume
66
issue
6
pages
839 - 844
publisher
American Academy of Neurology
external identifiers
  • pmid:16421333
  • wos:000236292300012
  • scopus:33645062075
ISSN
1526-632X
DOI
10.1212/01.wnl.0000200048.53766.b4
language
English
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yes
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The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
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2f3bcb6e-0ac9-407e-9386-7439083e999f (old id 150242)
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http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16421333&dopt=Abstract
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2016-04-01 15:56:02
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2020-02-19 03:27:52
@article{2f3bcb6e-0ac9-407e-9386-7439083e999f,
  abstract     = {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.},
  author       = {Morita, M and Al-Chalabi, A and Andersen, P M and Hosler, B and Sapp, P and Englund, Elisabet and Mitchell, J E and Habgood, J J and de Belleroche, J and Xi, J and Jongjaroenprasert, W and Horvitz, H R and Gunnarsson, L-G and Brown, R H},
  issn         = {1526-632X},
  language     = {eng},
  number       = {6},
  pages        = {839--844},
  publisher    = {American Academy of Neurology},
  series       = {Neurology},
  title        = {A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.},
  url          = {http://dx.doi.org/10.1212/01.wnl.0000200048.53766.b4},
  doi          = {10.1212/01.wnl.0000200048.53766.b4},
  volume       = {66},
  year         = {2006},
}