Aprataxin gene mutations in Tunisian families

Neurology

Volumn 63, Issue 5, 2004, Pages 928-929

  Amouri, R ^a   Moreira, M C ^b   Zouari, M ^a   El Euch, G ^c   Barhoumi, C ^a   Kefi, M ^a   Belal, S ^c   Koenig, M ^b   Hentati, Faycal ^a  

^a Institut National de Neurologie Tunisia   (Tunisia)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c Lab Neurobiol Molec/Neuropathol ^*

Author keywords

[No Author keywords available]

Indexed keywords

APRATAXIN GENE; APRAXIA; ARTICLE; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; GENE; GENE DELETION; GENE MUTATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOMOTOR APRAXIA; PRIORITY JOURNAL; TUNISIA;

EID: 4644369308     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000137044.06573.46     Document Type: Article

References (8)

1. Moreira MC, Barbot C, Tachi N, et al. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotorapraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 2001;68:501-508.
2. Nemeth A, Buchukova E, Dunne E, et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000;67:1320-1326.
3. Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet 2001;29:184-188.
4. Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet 2001;29:189-193.
5. Shimazaki H, Takiyama Y, Sakoe K, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002;59:590-595.
6. Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM. Phenotypic variability of aprataxin gene mutations. Neurology 2003;60:868-870.
7. Barbot C, Coutinho P, Chorao R, et al. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 2001;58:201-205.
8. Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol 2000;43:82-87.