The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients

被引：2

作者：

Cagnoli, Claudia ^{[1
,2
]}

Brussino, Alessandro ^{[1
,2
]}

Di Gregorio, Eleonora ^{[1
,2
]}

Brusco, Alfredo ^{[1
,2
]}

Stevanin, Giovanni ^{[3
,4
]}

Durr, Alexandra ^{[3
,4
]}

Brice, Alexis ^{[3
,4
]}

机构：

[1] Univ Turin, Dept Genet Biol & Biochem, Turin, Italy

[2] San Giovanni Battista Hosp, Med Genet Unit, Turin, Italy

[3] INSERM, UMR679, Dept Genet Cytogenet & Embryol, Paris, France

[4] Salpetriere Hosp, APHP, Paris, France

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 05期

关键词：

D O I：

10.1002/mds.21389

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：752 / 753

页数：2

共 5 条

[1] Molecular genetics of hereditary spinocerebellar ataxia - Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families [J].

Brusco, A ;

Gellera, C ;

Cagnoli, C ;

Saluto, A ;

Castucci, A ;

Michielotto, C ;

Fetoni, V ;

Mariotti, C ;

Migone, N ;

Di Donato, S ;

Taroni, F .

ARCHIVES OF NEUROLOGY, 2004, 61 (05) :727-733

[2] An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′-untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains [J].

Ishikawa, K ;

Toru, S ;

Tsunemi, T ;

Li, MS ;

Kobayashi, K ;

Yokota, T ;

Amino, T ;

Owada, K ;

Fujigasaki, H ;

Sakamoto, M ;

Tomimitsu, H ;

Takashima, M ;

Kumagai, J ;

Noguchi, Y ;

Kawashima, Y ;

Ohkoshi, N ;

Ishida, G ;

Gomyoda, M ;

Yoshida, M ;

Hashizume, Y ;

Saito, Y ;

Murayama, S ;

Yamanouchi, H ;

Mizutani, T ;

Kondo, I ;

Toda, T ;

Mizusawa, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (02) :280-296

[3] A-16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano [J].

Ohata, Takako ;

Yoshida, Kunihiro ;

Sakai, Haruya ;

Hamanoue, Haruka ;

Mizuguchi, Takeshi ;

Shimizu, Yusaku ;

Okano, Tomomi ;

Takada, Fumio ;

Ishikawa, Kinya ;

Mizusawa, Hidehiro ;

Yoshiura, Ko-ichiro ;

Fukushima, Yoshimitsu ;

Ikeda, Shu-ichi ;

Matsumoto, Naomichi .

JOURNAL OF HUMAN GENETICS, 2006, 51 (05) :461-466

[4] Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians [J].

Stevanin, G ;

Durr, A ;

Dussert, C ;

Penet, C ;

Brice, A .

NEUROLOGY, 2004, 63 (05) :936-936

[5] Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population [J].

Wieczorek, S ;

Arning, L ;

Alheite, I ;

Epplen, JT .

JOURNAL OF HUMAN GENETICS, 2006, 51 (04) :363-367

← 1 →

The (-16C&gt;T) substitution in the PLEKHG4 gene is not present among European ADCA patients

The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients