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

Neurology. 2006 Mar 28;66(6):839-44. doi: 10.1212/01.wnl.0000200048.53766.b4. Epub 2006 Jan 18.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Dementia / genetics*
  • Female
  • Genetic Linkage / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Quantitative Trait Loci / genetics*


  • Genetic Markers