Amyotrophic lateral sclerosis genetics

Familial amyotrophic lateral sclerosis. Familial amyotrophic lateral sclerosis (FALS) is observed in =10% of all cases, but substantially more ALS cases are suspected to be influenced to some degree by genetic factors [75], Mutations in two genes (SOD1 and ALS2 Table 39-3) have been shown to cause FALS, apart from mutations in tau (MAPT) leading to FTD with parkinsonism and... 

Majoor-Krakauer,D., Willems, P. J. andHofman, A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin. Genet. 63 83-101,2003. 

Andersen,P.M.,Nilsson,P.,Ala-Hurula,V. et al.Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat. Genet. 10 61-66,1995. 

Hadano, S., Hand, C. K., Osuga, H. et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet. 29 166-173, 2001. 

Figlewicz, D. A., Krizus, A., Martinoli, M. G. et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet. 3 1757-1761,1994. 

SELECTED GENETIC MODELS OF RELEVANCE TO AMYOTROPHIC LATERAL SCLEROSIS 735... 

Lambrechts, D., Storkebaum, E., Morimoto, M. et al. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat. Genet. 34 383-394, 2003. 

Hayward, C., et al., "Molecular Genetic Analysis of the APEX Nuclease Gene in Amyotrophic Lateral Sclerosis," Neurology, 52, 1899-1901 (1999). 

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurones. In 15-25% of cases, the genetic cause of the disease is a mutation of the enzyme Cu+/Zn2+... 

Genetic mutations in Cu—Zn SOD have been linked to the neurodegenera-tive disease amyotrophic lateral sclerosis (ALS), Lou Gehrig s disease [89],... 

Kunst CB. Complex genetics of amyotrophic lateral sclerosis. Am J Hum Genet 2004 75(6) 933-947. 

Perrin FE, Boisset G, Docquier M, Schaad O, Descombes P, Kato AC. No widespread induction of cell death genes occurs in pure motoneurons in an amyotrophic lateral sclerosis mouse model. Hum Mol Genet 2005 14(21) 3309-3320. 

Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jn, Hardiman O (2006) ANG mutations segregate with familial and sporadic amyotrophic lateral sclerosis. Nat Genet 38 411 13... 

Ungerstedt U, Arbuthnott GW (1970) Quantitative recording of rotational behavior in rats after 6-hydroxy-dopamine lesions of the nigrostriatal dopamine system. Brain Res 24 485-493 Valdmanis PN, Rouleau GA (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70 144-152... 

Al Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN (1999) Deledons of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 8 157—164. 

Figlewicz DA, BGizus A, Mardnoli MG, Meininger V, Dib M, Rouleau GA, Julien JP (1994) Variants of die heavy neurofilament subunit are associated widi die development of amyotrophic lateral sclerosis. Hum Mol Genet 3 1757—1761. 

Jones CT, Swingler RJ, Simpson SA, Brock DJ (1995) Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 32 290-292. 

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