Aprataxin gene mutations in Tunisian families

被引：31

作者：

Amouri, R

Moreira, MC

Zouari, M

El Euch, G

Barhoumi, C

Kefi, M

Belal, S

Koenig, M

Hentati, F ^{[1
]}

机构：

[1] Inst Natl Neurol, Lab Neurobiol Mol & Neuropathol, Tunis 1007, Tunisia

[2] Univ Strasbourg 1, CHU Strasbourg, CNRS, INSERM,Dept Biol Mol & Neuropathol, Illkirch Graffenstaden, France

[3] Univ Strasbourg 1, CHU Strasbourg, CNRS, INSERM,Inst Genet & Biol Cellulaire & Mol, Illkirch Graffenstaden, France

来源：

NEUROLOGY | 2004年 / 63卷 / 05期

关键词：

D O I：

10.1212/01.WNL.0000137044.06573.46

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report clinical and genetic study of 13 patients from three unrelated Tunisian families with an early onset cerebellar ataxia associated with oculomotor apraxia. Cerebellar ataxia with oculomotor apraxia 1 (AOA1) represents a clinically heterogeneous disease caused by mutations in the aprataxin gene. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7.

引用

页码：928 / 929

页数：2

共 8 条

[1] Recessive ataxia with ocular apraxia -: Review of 22 Portuguese patients [J].

Barbot, C ;

Coutinho, P ;

Chorao, R ;

Ferreira, C ;

Barros, J ;

Fineza, I ;

Dias, K ;

Monteiro, JP ;

Guimaraes, A ;

Mendonça, P ;

Moreira, MD ;

Sequeiros, J .

ARCHIVES OF NEUROLOGY, 2001, 58 (02) :201-205

[2] Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene [J].

Date, H ;

Onodera, O ;

Tanaka, H ;

Iwabuchi, K ;

Uekawa, K ;

Igarashi, S ;

Koike, R ;

Hiroi, T ;

Yuasa, T ;

Awaya, Y ;

Sakai, T ;

Takahashi, T ;

Nagatomo, H ;

Sekijima, Y ;

Kawachi, I ;

Takiyama, Y ;

Nishizawa, M ;

Fukuhara, N ;

Saito, K ;

Sugano, S ;

Tsuji, S .

NATURE GENETICS, 2001, 29 (02) :184-188

[3] The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [J].

Moreira, MC ;

Barbot, C ;

Tachi, N ;

Kozuka, N ;

Uchida, E ;

Gibson, T ;

Mendonça, P ;

Costa, M ;

Barros, J ;

Yanagisawa, T ;

Watanabe, M ;

Ikeda, Y ;

Aoki, M ;

Nagata, T ;

Coutinho, P ;

Sequeiros, J ;

Koenig, M .

NATURE GENETICS, 2001, 29 (02) :189-193

[4] Homozygosity mapping of portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity [J].

Moreira, MD ;

Barbot, C ;

Tachi, N ;

Kozuka, N ;

Mendonça, P ;

Barros, J ;

Coutinho, P ;

Sequeiros, J ;

Koenig, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (02) :501-508

[5] Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34 [J].

Németh, AH ;

Bochukova, E ;

Dunne, E ;

Huson, SM ;

Elston, J ;

Hannan, MA ;

Jackson, M ;

Chapman, CJ ;

Taylor, AMR .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (05) :1320-1326

[6] Early-onset ataxia with ocular motor apraxia and hypoalbuminemia -: The aprataxin gene mutations [J].

Shimazaki, H ;

Takiyama, Y ;

Sakoe, K ;

Ikeguchi, K ;

Niijima, K ;

Kaneko, J ;

Namekawa, M ;

Ogawa, T ;

Date, H ;

Tsuji, S ;

Nakano, I ;

Nishizawa, M .

NEUROLOGY, 2002, 59 (04) :590-595

[7] Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation [J].

Tachi, N ;

Kozuka, N ;

Ohya, K ;

Chiba, S ;

Sasaki, K .

EUROPEAN NEUROLOGY, 2000, 43 (02) :82-87

[8] Phenotypic variability of aprataxin gene mutations [J].

Tranchant, C ;

Fleury, M ;

Moreira, MC ;

Koenig, M ;

Warter, JM .

NEUROLOGY, 2003, 60 (05) :868-870

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