True sporadic ALS associated with a novel SOD-1 mutation

被引：83

作者：

Alexander, MD

Traynor, BJ

Miller, N

Corr, B

Frost, E

McQuaid, S

Brett, FM

Green, A

Hardiman, O

机构：

[1] Beaumont Hosp, Dept Neurol, Dublin 9, Ireland

[2] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin, Ireland

[3] St James Hosp, Dublin, Ireland

[4] Motor Neuron Dis Asoc Ireland, Dublin, Ireland

[5] Beaumont Hosp, Dept Neuropathol, Dublin, Ireland

[6] Univ Coll Dublin, Conway Inst, Dept Med Genet, Dublin 2, Ireland

来源：

ANNALS OF NEUROLOGY | 2002年 / 52卷 / 05期

关键词：

D O I：

10.1002/ana.10369

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the Cu/Zn superoxide dismutase gene (SOD-1) arc reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a "truly" sporadic case of ALS has been proved. We present the first case of a novel SOD-1 mutation in a patient with genetically proven sporadic ALS. This mutation (H80A) is believed to alter zinc ligand binding, and its functional significance correlates well with the aggressive clinical course and postmortem findings observed in this patient.

引用

页码：680 / 683

页数：4

共 15 条

[1] Slow vertical saccades in motor neuron disease:: Correlation of structure and function
Averbuch-Heller, L
Helmchen, C
Horn, AKE
Leigh, RJ
Büttner-Ennever, JA
[J]. ANNALS OF NEUROLOGY, 1998, 44 (04) : 641 - 648
[2] Beckman J.S., 2000, SCIENCE, V288, p399a
[3] Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
Cudkowicz, ME
McKennaYasek, D
Sapp, PE
Chin, W
Geller, B
Hayden, DL
Schoenfeld, DA
Hosler, BA
Horvitz, HR
Brown, RH
[J]. ANNALS OF NEUROLOGY, 1997, 41 (02) : 210 - 221
[4] 2 NOVEL SOD1 MUTATIONS IN PATIENTS WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS
DENG, HX
TAINER, JA
MITSUMOTO, H
OHNISHI, A
HE, XX
HUNG, WY
ZHAO, YL
JUNEJA, T
HENTATI, A
SIDDIQUE, T
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 (06) : 1113 - 1116
[5] Induction of nitric oxide-dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase
Estévez, AG
Crow, JP
Sampson, JB
Reiter, C
Zhuang, YX
Richardson, GJ
Tarpey, MM
Barbeito, L
Beckman, JS
[J]. SCIENCE, 1999, 286 (5449) : 2498 - 2500
[6] Hayward C, 1996, AM J HUM GENET, V59, P1165
[7] IDENTIFICATION OF A NOVEL SOD1 MUTATION IN AN APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS PATIENT AND THE DETECTION OF ILE113THR IN 3 OTHERS
JONES, CT
SWINGLER, RJ
BROCK, DJH
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (04) : 649 - 650
[8] CU/ZN SUPEROXIDE-DISMUTASE (SOD1) MUTATIONS AND SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS
JONES, CT
BROCK, DJH
CHANCELLOR, AM
WARLOW, CP
SWINGLER, RJ
[J]. LANCET, 1993, 342 (8878) : 1050 - 1051
[9] Consensus guidelines far the design and implementation of clinical trials in ALS
Miller, RG
Munsat, TL
Swash, M
Brooks, BR
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1999, 169 (1-2) : 2 - 12
[10] Orrell RW, 1996, ANN NEUROL, V39, P810

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