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Neurology. 2006 Mar 28;66(6):839-44. Epub 2006 Jan 18.

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

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  • 1Day Neuromuscular Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA.



To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD).


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.


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.


A locus on chromosome 9p21.3-p13.3 is linked to ALS-FTD.

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