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.
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.
Authors: Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers Journal: Neuron Date: 2011-09-21 Impact factor: 17.173
Authors: Mariely DeJesus-Hernandez; Jannet Kocerha; NiCole Finch; Richard Crook; Matt Baker; Pamela Desaro; Amelia Johnston; Nicola Rutherford; Aleksandra Wojtas; Kathleen Kennelly; Zbigniew K Wszolek; Neill Graff-Radford; Kevin Boylan; Rosa Rademakers Journal: Hum Mutat Date: 2010-05 Impact factor: 4.878
Authors: Justin P Pearson; Nigel M Williams; Elisa Majounie; Adrian Waite; Jennifer Stott; Victoria Newsway; Alex Murray; Dena Hernandez; Rita Guerreiro; Andrew B Singleton; James Neal; Huw R Morris Journal: J Neurol Date: 2010-11-12 Impact factor: 4.849
Authors: Nigel J Cairns; Eileen H Bigio; Ian R A Mackenzie; Manuela Neumann; Virginia M-Y Lee; Kimmo J Hatanpaa; Charles L White; Julie A Schneider; Lea Tenenholz Grinberg; Glenda Halliday; Charles Duyckaerts; James S Lowe; Ida E Holm; Markus Tolnay; Koichi Okamoto; Hideaki Yokoo; Shigeo Murayama; John Woulfe; David G Munoz; Dennis W Dickson; Paul G Ince; John Q Trojanowski; David M A Mann Journal: Acta Neuropathol Date: 2007-06-20 Impact factor: 17.088
Authors: Nicola J Rutherford; Michael G Heckman; Mariely Dejesus-Hernandez; Matt C Baker; Alexandra I Soto-Ortolaza; Sruti Rayaprolu; Heather Stewart; Elizabeth Finger; Kathryn Volkening; William W Seeley; Kimmo J Hatanpaa; Catherine Lomen-Hoerth; Andrew Kertesz; Eileen H Bigio; Carol Lippa; David S Knopman; Hans A Kretzschmar; Manuela Neumann; Richard J Caselli; Charles L White; Ian R Mackenzie; Ronald C Petersen; Michael J Strong; Bruce L Miller; Bradley F Boeve; Ryan J Uitti; Kevin B Boylan; Zbigniew K Wszolek; Neill R Graff-Radford; Dennis W Dickson; Owen A Ross; Rosa Rademakers Journal: Neurobiol Aging Date: 2012-07-26 Impact factor: 4.673