Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

被引：46

作者：

Richter, AM

Ozgul, RK

Poisson, VC

Topaloglu, H

机构：

[1] Hop St Justine, Serv Genet Med, Montreal, PQ H3T 1C5, Canada

[2] Hacettepe Univ, Inst Child Hlth, TUBITAK, DNA Cell Bank & Gene Res Lab, Ankara, Turkey

[3] Hacettepe Childrens Hosp Med Ctr, Dept Child Neurol, TR-06100 Ankara, Turkey

来源：

NEUROGENETICS | 2004年 / 5卷 / 03期

关键词：

spastic ataxia; Turkey; SACS mutation;

D O I：

10.1007/s10048-004-0179-y

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Quebec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

引用

页码：165 / 170

页数：6

共 20 条

[1] Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes [J].

Aparicio, S ;

Chapman, J ;

Stupka, E ;

Putnam, N ;

Chia, J ;

Dehal, P ;

Christoffels, A ;

Rash, S ;

Hoon, S ;

Smit, A ;

Gelpke, MDS ;

Roach, J ;

Oh, T ;

Ho, IY ;

Wong, M ;

Detter, C ;

Verhoef, F ;

Predki, P ;

Tay, A ;

Lucas, S ;

Richardson, P ;

Smith, SF ;

Clark, MS ;

Edwards, YJK ;

Doggett, N ;

Zharkikh, A ;

Tavtigian, SV ;

Pruss, D ;

Barnstead, M ;

Evans, C ;

Baden, H ;

Powell, J ;

Glusman, G ;

Rowen, L ;

Hood, L ;

Tan, YH ;

Elgar, G ;

Hawkins, T ;

Venkatesh, B ;

Rokhsar, D ;

Brenner, S .

SCIENCE, 2002, 297 (5585) :1301-1310

[2] 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

[3] Autosomal recessive spastic ataxia of Charlevoix-Saguenay [J].

Bouchard, JP ;

Richter, A ;

Mathieu, J ;

Brunet, D ;

Hudson, TJ ;

Morgan, K ;

Melançon, SB .

NEUROMUSCULAR DISORDERS, 1998, 8 (07) :474-479

[4]

Bouchard JP, 1991, HDB CLIN NEUROLOGY, P451

[5]

CHAIGNE D, 1993, REV NEUROL PARIS, V149, P585

[6] 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

[7] HEREDITARY DISORDERS IN SAGUENAY-LAC-ST-JEAN (QUEBEC, CANADA) [J].

DEBRAEKELEER, M .

HUMAN HEREDITY, 1991, 41 (03) :141-146

[8] GENETIC EPIDEMIOLOGY OF AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN NORTHEASTERN QUEBEC [J].

DEBRAEKELEER, M ;

GIASSON, F ;

MATHIEU, J ;

ROY, M ;

BOUCHARD, JP ;

MORGAN, K .

GENETIC EPIDEMIOLOGY, 1993, 10 (01) :17-25

[9] 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

[10]

EUCHFAYACHE G, 2003, ARCH NEUROL-CHICAGO, V60, P982

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