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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 orcid ; 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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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Neurology
volume
66
issue
6
pages
839 - 844
publisher
Lippincott Williams & Wilkins
external identifiers
  • pmid:16421333
  • wos:000236292300012
  • scopus:33645062075
ISSN
1526-632X
DOI
10.1212/01.wnl.0000200048.53766.b4
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000)
id
2f3bcb6e-0ac9-407e-9386-7439083e999f (old id 150242)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16421333&dopt=Abstract
date added to LUP
2016-04-01 15:56:02
date last changed
2022-04-15 00:55:44
@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    = {{Lippincott Williams & Wilkins}},
  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}},
}