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Title [sv]
Klinisk-genetisk forskning om sporadisk och familjär amyotrofisk lateral skleros (ALS) med eller utan demens
Title [en]
Genetic factors causing sporadic and familial amyotrophic lateral sclerosis (ALS/MND) with or without dementia
Abstract [sv]
ALS is a fatal neurodegenerative syndrome characterized by progressive loss of motorneurons in the brain and spinal cord resulting in paralysis and death. 230 cases are diagnosed annually in Sweden. 10% have a dominantly Mendelian-inherited family history of ALS. The only known prevalent cause of ALS is mutations in the superoxide dismutase 1 (SOD1) gene. Since 1993, 146 SOD1 mutations have been found, 38 by us and 18 in Nordic ALS cases. 6% of ALS cases have a SOD1 mutation. The mutant SOD1 causes ALS by an unknown aquired noxious property. The D90A is the only SOD1 mutation inherited as a recessive trait and causes an unique type of ALS with long survival suggesting that D90A patients have co-inherited a modifying protective gene which is absent in other mutants. Our objectives are to find the D90A-modifying gene (preliminary data suggest it is on chromosome 10) and search for other genes causing ALS: In a 2200-individual family with low disease penetrance and a typical ?sporadic? ALS phenotype we have obtained a LOD score of 6.83 for a new locus predisposing to ALS. A consistent haplotype over 8 markers in a 3.9 cM region has been constructed. This is the worlds largest ALS pedigree. In another family with ALS-dementia we have obtained a LOD of 3.11 for a locus on 9p21. We have evidence that a single mutated genetic locus can cause either ALS or dementia. We have shown that variants of ANG, CHMP2b, TDP43, DCTN1, VAPB, ALSIN and VEGF genes are associated with sporadic ALS.
Principal InvestigatorAndersen, Peter
Coordinating organisation
Umeå University
Funder
Period
2010-01-01 － 2012-12-31
Identifiers
DiVA, id: project:1004Project, id: 2009-03548_VR

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