Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
Am J Hum Genet
; 67(5): 1320-6, 2000 Nov.
Article
de En
| MEDLINE
| ID: mdl-11022012
ABSTRACT
Ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, oculomotor apraxia, and choreoathetosis. These neurological features resemble those of ataxia-telangiectasia (AT), but in AOA there are none of the extraneurological features of AT, such as immunodeficiency, neoplasia, chromosomal instability, or sensitivity to ionizing radiation. It is unclear whether these patients have a true disorder of chromosomal instability or a primary neurodegenerative syndrome, and it has not been possible to identify the defective gene in AOA, since the families have been too small for linkage analysis. We have identified a new family with AOA, and we show that the patients have no evidence of chromosomal instability or sensitivity to ionizing radiation, suggesting that AOA in this family is a true primary cerebellar ataxia. We have localized the disease gene, by linkage analysis and homozygosity mapping, to a 15.9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Apraxies
/
Chromosomes humains de la paire 9
/
Ataxie-télangiectasie
/
Ataxie cérébelleuse
/
Enzymes de réparation de l'ADN
/
Gènes récessifs
/
Liaison génétique
Type d'étude:
Prognostic_studies
Limites:
Female
/
Humans
/
Male
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
Am J Hum Genet
Année:
2000
Type de document:
Article
Pays d'affiliation:
Royaume-Uni