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Published online before print January 18, 2006, doi:10.1212/01.wnl.0000200048.53766.b4)
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Received August 1, 2005
Accepted November 30, 2005

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

M. Morita MD, PhD, A. Al-Chalabi PhD, FRCP, P. M. Andersen MD, DMSc, B. Hosler PhD, P. Sapp PhD, E. Englund MD, PhD, J. E. Mitchell PhD, J. J. Habgood BSc, J. de Belleroche DSc FRCPath, J. Xi MD, W. Jongjaroenprasert MD, PhD, H. R. Horvitz PhD, L.-G. Gunnarsson MD, PhD, and R. H. Brown Jr MD, DPhil

From Day Neuromuscular Laboratory (M.M., A.A.-C., P.M.A., B.H., P.S., J.X., W.J., R.H.B.), Massachusetts General Hospital and Harvard Medical School, Boston; Department of Neurology (A.A.-C.), King’s College London, Institute of Psychiatry, UK; Department of Neurology (P.M.A.), Umea° University Hospital and Institute of Clinical Neuroscience, Umea° University, Sweden; Howard Hughes Medical Institute (P.S., H.R.H.), Department of Biology, Massachusetts Institute of Technology, Cambridge; Department of Pathology (E.E.), Lund University Hospital, Sweden; Faculty of Medicine (J.E.M., J.J.H., J.d.B.), Imperial College London, Charing Cross Hospital, UK; and Department of Clinical Medicine (L.-G.G.), Örebro University Hospital, Örebro University, Sweden.


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.




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