Novel SACS mutation in a Belgian family with sacsin-related ataxia

被引：27

作者：

Ouyang, Y. ^{[1
,5
]}

Segers, K. ^{[2
]}

Bouquiaux, O. ^{[3
]}

Wang, F. C. ^{[4
]}

Janin, N. ^{[2
]}

Andris, C. ^{[6
]}

Shimazaki, H. ^{[1
]}

Sakoe, K. ^{[1
]}

Nakano, I. ^{[1
]}

Takiyama, Y. ^{[1
]}

机构：

[1] Jichi Med Univ, Dept Internal Med, Div Neurol, Tochigi 3290498, Japan

[2] Hop Sart Tilman, Dept Human Genet, Liege, Belgium

[3] Ctr Hosp Ardenne, Dept Neurol, Libramont, Belgium

[4] Hop Sart Tilman, Dept Neurol, Liege, Belgium

[5] China Med Univ, Affiliated Hosp 1, Dept Neurol, Shenyang 110001, Peoples R China

[6] Hop Sart Tilman, Dept Neurol, Liege, Belgium

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2008年 / 264卷 / 1-2期

关键词：

ARSACS; the SACS gene; Belgian family; teenage-onset;

D O I：

10.1016/j.jns.2007.07.022

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix-Saguenay. (C) 2007 Elsevier B.V. All rights reserved.

引用

页码：73 / 76

页数：4

共 16 条

[1] AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY [J].

BOUCHARD, JP ;

BARBEAU, A ;

BOUCHARD, R ;

BOUCHARD, RW .

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1978, 5 (01) :61-69

[2] A novel locus for autosomal recessive spastic ataxia on chromosome 17p [J].

Bouslam, Naima ;

Bouhouche, Ahmed ;

Benomar, Ali ;

Hanein, Sylvain ;

Klebe, Stephan ;

Azzedine, Hamid ;

Di Giandomenico, Silvia ;

Boland-Auge, Anne ;

Santorelli, Filippo M. ;

Durr, Alexandra ;

Brice, Alexis ;

Yahyaoui, Mohamed ;

Stevanin, Giovanni .

HUMAN GENETICS, 2007, 121 (3-4) :413-420

[3] Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia [J].

Criscuolo, C ;

Saccà, F ;

De Michele, G ;

Mancini, P ;

Combarros, O ;

Infante, J ;

Garcia, A ;

Banfi, S ;

Filla, A ;

Berciano, J .

MOVEMENT DISORDERS, 2005, 20 (10) :1358-1361

[4] A novel mutation in SACS gene in a family from southern Italy [J].

Criscuolo, C ;

Banfi, S ;

Orio, M ;

Gasparini, P ;

Monticelli, A ;

Scarano, V ;

Santorelli, FM ;

Perretti, A ;

Santoro, L ;

De Michele, G ;

Filla, A .

NEUROLOGY, 2004, 62 (01) :100-102

[5]

ELEUCHFAYACHE G, 2003, ARCH NEUROL-CHICAGO, V60, P928

[6] ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF [J].

Engert, JC ;

Bérubé, P ;

Mercier, J ;

Doré, C ;

Lepage, P ;

Ge, B ;

Bouchard, JP ;

Mathieu, J ;

Melancon, SB ;

Schalling, M ;

Lander, ES ;

Morgan, K ;

Hudson, TJ ;

Richter, A .

NATURE GENETICS, 2000, 24 (02) :120-125

[7] ARSACS goes global [J].

Gomez, CM .

NEUROLOGY, 2004, 62 (01) :10-11

[8]

KREBE S, 2006, BRAIN, V129, P1456

[9] Sacsin-related ataxia (ARSACS): Expanding the genotype upstream from the gigantic exon [J].

Ouyang, Y ;

Takiyama, Y ;

Sakoe, K ;

Shimazaki, H ;

Ogawa, T ;

Nagano, S ;

Yamamoto, Y ;

Nakano, I .

NEUROLOGY, 2006, 66 (07) :1103-1104

[10] Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey [J].

Richter, AM ;

Ozgul, RK ;

Poisson, VC ;

Topaloglu, H .

NEUROGENETICS, 2004, 5 (03) :165-170

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