D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

被引：27

作者：

Giannini, Fabio ^{[1
]}

Battistini, Stefania

Mancuso, Michelangelo ^{[3
]}

Greco, Giuseppe

Ricci, Claudia

Volpi, Nila ^{[2
]}

Del Corona, Alberto ^{[3
]}

Piazza, Selina ^{[3
]}

Siciliano, Gabriele ^{[3
]}

机构：

[1] Univ Siena, Neurol Sect, Dept Neurosci, I-53100 Siena, Italy

[2] Univ Siena, Dept Biomed Sci, I-53100 Siena, Italy

[3] Univ Pisa, Dept Neurosci, Pisa, Italy

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2010年 / 11卷 / 1-2期

关键词：

SOD1; D90A; sensory neuropathy; AMYOTROPHIC-LATERAL-SCLEROSIS; SUPEROXIDE-DISMUTASE GENE; SOD1; GENE; SENSORY NEUROPATHY; D90A; IDENTIFICATION;

D O I：

10.3109/17482960902721642

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Among the 140 Cu/Zn superoxide dismutase-1 (SOD1) gene mutations associated with ALS, only D90A, the most prevalent mutation in Europe, has been clearly shown to cause recessive and dominant ALS. Here we first describe two, apparently sporadic, Italian ALS patients heterozygous for the D90A mutation. One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients.</.

引用

页码：216 / 219

页数：4

共 20 条

[1] Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes [J].

Andersen, PM ;

Sims, KB ;

Xin, WW ;

Kiely, R ;

O'Neill, G ;

Ravits, J ;

Pioro, E ;

Harati, Y ;

Brower, RD ;

Levine, JS ;

Heinicke, HU ;

Seltzer, W ;

Boss, M ;

Brown, RH .

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS, 2003, 4 (02) :62-73

[2] Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia [J].

Andersen, PM ;

Nilsson, P ;

Keranen, ML ;

Forsgren, L ;

Hagglund, J ;

Karlsborg, M ;

Ronnevi, LO ;

Gredal, O ;

Marklund, SL .

BRAIN, 1997, 120 :1723-1737

[3] Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis [J].

Boukaftane, Y ;

Khoris, J ;

Moulard, B ;

Salachas, F ;

Meininger, V ;

Malafosse, A ;

Camu, W ;

Rouleau, GA .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1998, 25 (03) :192-196

[4]

CONFORTI FL, 2008, AMYOTROPH LATERAL SC, V2, P1

[5] Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene -: Reply [J].

Corcia, P ;

Jafari-Schluep, HF ;

Camu, W .

ANNALS OF NEUROLOGY, 2004, 55 (02) :299-299

[6] Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population:: Should all sporadic ALS cases also be screened for SOD1? [J].

Gamez, Josep ;

Corbera-Bellalta, Marc ;

Nogales, Gisela ;

Raguer, Nuria ;

Garcia-Arumi, Elena ;

Badia-Canto, Merce ;

Llado-Carbo, E. ;

Alvarez-Sabin, Jose .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2006, 247 (01) :21-28

[7] Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations [J].

Gellera, C ;

Castellotti, B ;

Riggio, MC ;

Silani, V ;

Morandi, L ;

Testa, D ;

Casali, C ;

Taroni, F ;

Di Donato, S ;

Zeviani, M ;

Mariotti, C .

NEUROMUSCULAR DISORDERS, 2001, 11 (04) :404-410

[8]

Hand CK, 2001, ANN NEUROL, V49, P267, DOI 10.1002/1531-8249(20010201)49:2<267::AID-ANA51>3.0.CO

[9]

2-D

[10] Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? [J].

Isaacs, Jeremy D. ;

Dean, Andrew F. ;

Shaw, Christopher E. ;

Al-Chalabi, Ammar ;

Mills, Kerry R. ;

Leigh, P. Nigel .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2007, 78 (07) :750-753

← 1 2 →