Rapid disease progression correlates with instability of mutant SOD1 in familial ALS

Neurology

Volumn 65, Issue 12, 2005, Pages 1954-1957

  Sato, T ^a   Nakanishi, T ^b   Yamamoto, Y ^a   Andersen, P M ⁱ   Ogawa, Y ^a   Fukada, K ^a   Zhou, Z ^a   Aoike, F ^a   Sugai, F ^a   Nagano, S ^a   Hirata, S ^c   Ogawa, M ^d   Nakano, R ^e   Ohi, T ^f   Kato, T ^g   Nakagawa, M ^h   Hamasaki, T ^a   Shimizu, A ^b   Sakoda, S ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c HYOGO PREFECTURAL AWAJI HOSPITAL   (Japan)

^d AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^e NIIGATA UNIVERSITY   (Japan)

^f UNIVERSITY OF MIYAZAKI   (Japan)

^g YAMAGATA UNIVERSITY   (Japan)

^h KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

ⁱ UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; SOD1 PROTEIN; UNCLASSIFIED DRUG; COPPER ZINC SUPEROXIDE DISMUTASE; SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; DISEASE COURSE; DISEASE DURATION; ERYTHROCYTE; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; HUMAN; MALE; MUTANT; PRIORITY JOURNAL; PROTEIN METABOLISM; SOD1 GENE; SURVIVAL TIME; CENTRAL NERVOUS SYSTEM; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; METABOLISM; MIDDLE AGED; MOTONEURON; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PREDICTION AND FORECASTING; PROGNOSIS; SURVIVAL RATE; TIME;

ADULT; AGE OF ONSET; AGED; AMYOTROPHIC LATERAL SCLEROSIS; CENTRAL NERVOUS SYSTEM; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MOTOR NEURONS; MUTATION; PREDICTIVE VALUE OF TESTS; PROGNOSIS; SUPEROXIDE DISMUTASE; SURVIVAL RATE; TIME FACTORS;

EID: 33645737741     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000188760.53922.05     Document Type: Article

References (10)

1. Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996;61:565-572.
2. Andersen PM, Nilsson P, Keranen ML, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997;120:1723-1737.
3. Nakanishi T, Kishikawa M, Miyazaki A, et al. Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. J Neurosci Methods 1998;81:41-44.
4. Arisato T, Okubo R, Arata H, et al. Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families. Acta Neuropathol (Berl) 2003;106:561-568.
5. Akaike H. Information theory and an extension of the maximum likelihood principle. In: Petrov BN, Csaki F, eds. The 2nd International Symposium on Information Theory. Budapest, Akademi Kaido, 1972: 267-281.
6. Lindberg MJ, Tibell L, Oliveberg M. Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state. Proc Natl Acad Sci USA 2002;99:16607-16612.
7. Ratovitski T, Corson LB, Strain J, et al. Variation in the biochemical/ biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum Mol Genet 1999;8:1451-1460.
8. Bruijn LI, Becher MW, Lee MK, et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 1997;18:327-338.
9. Jonsson PA, Ernhill K, Andersen PM, et al. Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis. Brain 2004;127:73-88.
10. Fukada K, Nagano S, Satoh M, et al. Stabilization of mutant Cu/Zn superoxide dismutase (SOD1) protein by coexpressed wild SOD1 protein accelerates the disease progression in familial amyotrophic lateral sclerosis mice. Eur J Neurosci 2001;14:2032-2036.