A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis

Neurobiology of Aging

Volumn 35, Issue 1, 2014, Pages 266.e1-266.e4

  Dangoumau, Audrey ^a   Verschueren, Annie ^b   Hammouche, Ellen ^c   Papon, Marie Amélie ^a   Blasco, Hélène ^a,c   Cherpi Antar, Catherine ^a,c   Pouget, Jean ^b   Corcia, Philippe ^a,d   Andres, Christian R ^a,c   Vourc'h, Patrick ^a,c  

^a UNIVERSITÉ DE TOURS   (France)

^b TIMONE HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF TOURS   (France)

^d CHU BRETONNEAU   (France)

Author keywords

ALS; Mutation; SOD1

Indexed keywords

ALANINE; COPPER ZINC SUPEROXIDE DISMUTASE; RNA BINDING PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; TAR DNA BINDING PROTEIN; VALINE;

ACHILLES REFLEX; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BABINSKI REFLEX; C9ORF72 GENE; CATALYSIS; CELL VIABILITY; DETERIORATION; DIFFERENTIAL DIAGNOSIS; DIMERIZATION; DISEASE COURSE; EXON; FASCICULATION; FUS GENE; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; HUMAN; HYPERREFLEXIA; KNEE JERK REFLEX; MALE; MUSCLE ATROPHY; MUSCLE CRAMP; MUSCLE DENERVATION; MUSCLE RIGIDITY; MUSCLE WEAKNESS; NEEDLE ELECTRODE; NEUROLOGIC EXAMINATION; PATELLA; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOD1 GENE; SPASTIC PARAPLEGIA; TARDBP GENE;

ALS; MUTATION; SOD1;

AGE FACTORS; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CELL AGGREGATION; CELL SURVIVAL; CELLS, CULTURED; DISEASE PROGRESSION; HUMANS; MALE; MICE; MIDDLE AGED; MUTATION; PHENOTYPE; SUPEROXIDE DISMUTASE; TIME FACTORS;

EID: 84885189899     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.07.012     Document Type: Article

References (14)

1. Abel O., Powel J.F., Andersen P.M., Al-Chalabi A. ALSoD: a user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics. Hum. Mutat. 2012, 9:1345-1351.
2. Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurol. 2011, 7:603-615.
3. Corcia P., Camu W., Halimi J.M., Vourc'h P., Antar C., Vedrine S., Giraudeau B., DeToffol B., Andres C.R. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 2006, 67:1147-1150.
4. Corcia P., Petiot P., Stevic Z., Vourc'h P., Morales R., Gordon P.H., Pageot N., Andres C., Camu W. Respiratory onset in an ALS family with L144F SOD1 mutation. J.Neurol. Neurosurg. Psychiatry 2011, 82:747-749.
5. Cudkowicz M.E., McKenna-Yasek D., Chen C., Hedley-Whyte E.T., Brown R.H. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann. Neurol. 1998, 43:703-710.
6. Dangoumau A., Veyrat-Durebex C., Blasco H., Praline J., Corcia P., Andres C.R., Vourc'h P. Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis. Int. J. Neurosci. 2013, 123:366-374.
7. Juneja T., Pericak-Vance M.A., Laing N.G., Dave S., Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology 1997, 48:55-57.
8. Rabe M., Felbecker A., Waibel S., Steinbach P., Winter P., Müller U., Ludolph A.C. The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J.Neurol. 2010, 257:1298-1302.
9. Radunovíc A., Leigh P.N. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J.Neurol. Neurosurg. Psychiatry 1996, 61:565-572.
10. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
11. Sau D., De Biasi S., Vitellaro-Zuccarello L., Riso P., Guarnieri S., Porrini M., Simeoni S., Crippa V., Onesto E., Palazzolo I., Rusmini P., Bolzoni E., Bendotti C., Poletti A. Mutation of SOD1 in ALS: a gain of a loss of function. Hum. Mol. Genet. 2007, 16:1604-1618.
12. Själander A., Beckman G., Deng H.X., Iqbal Z., Tainer J.A., Siddique T. TheD90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland. Hum. Mol. Genet. 1995, 4:1105-1108.
13. Tortelli R., Conforti F.L., Cortese R., D'Errico E., Distaso E., Mazzei R., Ungaro C., Magariello A., Gambardella A., Logroscino G., Simone I.L. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene. Neurobiol. Aging 2013, 34:1709.e3-1709.e5.
14. Turner M.R., Hardiman O., Benatar M., Brooks B.R., Chio A., De Carvalho M., Ince P.G., Lin C., Miller R.G., Mitsumoto H., Nicholson G., Ravits J., Shaw P.J., Swash M., Talbot K., Traynor B.J., Van den Berg L.H., Veldink J.H., Vucic S., Kiernan M.C. Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol 2013, 12:310-322.