Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

Neurogenetics

Volumn 8, Issue 3, 2007, Pages 235-236

  Fogh, Isabella ^a   Rijsdijk, Fruhling ^a   Andersen, Peter M ^c   Sham, Pak C ^d   Knight, Joanne ^a   Neale, Benjamin ^a   McKenna Yasek, Diane ^e   Silani, Vincenzo ^b   Brown Jr , Robert H ^e   Powell, John F ^a   Al Chalabi, Ammar ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF HONG KONG   (Hong Kong)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; GENE MUTATION; GENOTYPE; HERITABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

AGE OF ONSET; AMINO ACID SUBSTITUTION; FOUNDER EFFECT; HUMANS; MODELS, GENETIC; MOTOR NEURON DISEASE; SUPEROXIDE DISMUTASE;

EID: 34447306605     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0092-2     Document Type: Letter

References (6)

1. Rosen DR, Bowling AC, Patterson D, Usdin TB, Sapp P, Mezey E, Kenna-Yasek D, O'Regan J, Rahmani Z, Ferrante RJ (1994) A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 3(6):981-987
2. Rosen DR (2004) A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation. Clin Genet 66(3):247-250
3. Andersen PM, Forsgren L, Binzer M, Nilsson P, la-Hurula V, Keranen ML, Bergmark L, Saarinen A, Haltia T, Tarvainen I, Kinnunen E, Udd B, Marklund SL (1996) Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 119(4):1153-1172
4. Duggirala R, Blangero J, Almasy L, Dyer TD, Williams KL, Leach RJ, O'Connell P, Stern MP (1999) Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 64(4):1127-1140
5. Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder, Penchaszadeh G, Roberts SA, Gayan J, Brocklebank D, Cherny SS, Cardon LR, GrayJ, Dlouhy SR, Wiktorski S, Hodes ME, Conneally PM, Penney JB, Gusella J, Cha JH, Irizarry M, Rosas D, Hersch S, Hollingsworth Z, MacDonald M, Young AB, Andresen JM, Housman DE, De Young MM, Bonilla E, Stillings T, Negrette A, Snodgrass SR, Martinez-Jaurrieta MD, Ramos-Arroyo MA, Bickham J, Ramos JS, Marshall F, Shoulson I, Rey GJ, Feigin A, Arnheim N, Acevedo-Cruz A, Acosta L, Alvir J, Fischbeck K, Thompson LM, Young A, Dure L, O'Brien CJ, Paulsen J, Brickman A, Krch D, Peery S, Hogarth P, Higgins DS Jr, Landwehrmeyer B, US-Venezuela Collaborative Research Project (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A 101(10):3498-3503
6. Li YJ, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen FA Jr, Goetz CG, Mastaglia F, Stajich JM, Gibson RA, Middleton LT, Saunders AM, Scott BL, Small GW, Nicodemus KK, Reed AD, Schmechel DE, Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR, Vance JM, Haines JL, Pericak-Vance MA (2002) Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 70(4):985-993