Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

被引：19

作者：

Avemaria, Francesca ^{[2
]}

Lunetta, Christian ^{[1
]}

Tarlarini, Claudia ^{[2
]}

Mosca, Lorena ^{[2
]}

Maestri, Eleonora ^{[1
]}

Marocchi, Alessandro ^{[2
]}

Melazzini, Mario ^{[1
]}

Penco, Silvana ^{[2
]}

Corbo, Massimo ^{[1
]}

机构：

[1] Osped Niguarda Ca Granda, NEuroMuscularOmnictr NEMO, Fdn Serena Onlus, I-20162 Milan, Italy

[2] Osped Niguarda Ca Granda, Dept Lab Med, I-20162 Milan, Italy

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2011年 / 12卷 / 03期

关键词：

Amyotrophic lateral sclerosis; senataxin; familial; Italian; AMYOTROPHIC-LATERAL-SCLEROSIS; FORM;

D O I：

10.3109/17482968.2011.566930

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.

引用

页码：228 / 230

页数：3

共 6 条

[1] Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations [J].

Baeumer, D. ;

Hilton, D. ;

Paine, S. M. L. ;

Turner, M. R. ;

Lowe, J. ;

Talbot, K. ;

Ansorge, O. .

NEUROLOGY, 2010, 75 (07) :611-618

[2] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) [J].

Chen, YZ ;

Bennett, CL ;

Huynh, HM ;

Blair, IP ;

Puls, I ;

Irobi, J ;

Dierick, I ;

Abel, A ;

Kennerson, ML ;

Rabin, BA ;

Nicholson, GA ;

Auer-Grumbach, M ;

Wagner, K ;

De Jonghe, P ;

Griffin, JW ;

Fischbeck, KH ;

Timmerman, V ;

Cornblath, DR ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1128-1135

[3] A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 [J].

Hadano, S ;

Hand, CK ;

Osuga, H ;

Yanagisawa, Y ;

Otomo, A ;

Devon, RS ;

Miyamoto, N ;

Showguchi-Miyata, J ;

Okada, Y ;

Singaraja, R ;

Figlewicz, DA ;

Kwiatkowski, T ;

Hosler, BA ;

Sagie, T ;

Skaug, J ;

Nasir, J ;

Brown, RH ;

Scherer, SW ;

Rouleau, GA ;

Hayden, MR ;

Ikeda, JE .

NATURE GENETICS, 2001, 29 (02) :166-173

[4] Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers [J].

Hentati, A ;

Ouahchi, K ;

Pericak-Vance, MA ;

Nijhawan, D ;

Ahmad, A ;

Yang, Y ;

Rimmler, J ;

Hung, WY ;

Schlotter, B ;

Ahmed, A ;

Ben Hamida, M ;

Hentati, F ;

Siddique, T .

NEUROGENETICS, 1998, 2 (01) :55-60

[5] Senataxin mutations and amyotrophic lateral sclerosis [J].

Hirano, Michio ;

Quinzii, Catarina M. ;

Mitsumoto, Hiroshi ;

Hays, Arthur P. ;

Roberts, J. Kirk ;

Richard, Patricia ;

Rowland, Lewis P. .

AMYOTROPHIC LATERAL SCLEROSIS, 2011, 12 (03) :223-227

[6] A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis [J].

Zhao, Zhen-hua ;

Chen, Wen-zu ;

Wu, Zhi-ying ;

Wang, Ning ;

Zhao, Gui-xian ;

Chen, Wan-jin ;

Murong, Shen-xing .

AMYOTROPHIC LATERAL SCLEROSIS, 2009, 10 (02) :118-122

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