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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Journal of Neurology, Volume 258, No. 1, Year 2011
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Description
The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically heterogeneous. Multigenic inheritance also applies to the autosomal recessive progressive cerebellar ataxias (ARCAs), for which 14 genes have been identified and more are expected to be discovered. We used homozygosity mapping as a guide for identification of the defective locus in patients with ARCA born from consanguineous parents. Patients from 97 families were analyzed with GeneChip Mapping 10K or 50K SNP Affymetrix microarrays. We identified six families homozygous for regions containing the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) gene, two families homozygous for the ataxia-telangiectasia gene (ATM), two families homozygous for the ataxia with oculomotor apraxia type 1 (AOA1) gene, and one family homozygous for the AOA type 2 (AOA2) gene. Upon direct gene testing, we were able to identify a disease-related mutation in all families but one of the two kindred homozygous at the ATM locus. Although linkage analyses pointed to a single locus on chromosome 11q22.1-q23.1 for this family, clinical features, normal levels of serum alpha-foetoprotein as well as absence of mutations in the ATM gene rather suggest the existence of an additional ARCA-related gene in that interval. While the use of homozygosity mapping was very effective at pointing to the correct gene, it also suggests that the majority of patients harbor mutations either in the genes of the rare forms of ARCA or in genes yet to be identified. © 2010 Springer-Verlag.
Authors & Co-Authors
H´mida, Dorra
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
M'Zahem, Abderrahim
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Assoum, Mirna
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Bouhlal, Yosr
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Fattori, Fabiana
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Anheim, Mathieu
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Ali-Pacha, Lamia
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Ferrat, Farida
Algeria, Algiers
Etablissement Hospitalier Spécialisé de Ben Aknoun
Chaouch, Malika
Algeria, Algiers
Etablissement Hospitalier Spécialisé de Ben Aknoun
Lagier-Tourenne, Clotilde
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Drouot, Nathalie
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Thibaut, C.
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Benhassine, Traki
Algeria, Algiers
Institut Pasteur - Alger
Sifi, Yamina
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Stoppa-Lyonnet, Dominique
France, Paris
Cancer, Hétérogénéité, Instabilité et Plasticité Chip
France, Paris
Université Paris Cité
N'Guyen, Karine
France, Marseille
Hôpitaux de Marseille
Poujet, J.
France, Marseille
Hôpitaux de Marseille
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Hentati, F. F.
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Amouri, Rim
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Santorelli, Filippo Maria
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Kœnig, Michel
France, Strasbourg
Université de Strasbourg
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Statistics
Citations: 23
Authors: 23
Affiliations: 11
Identifiers
Doi:
10.1007/s00415-010-5682-5
ISSN:
03405354
e-ISSN:
14321459
Research Areas
Cancer
Genetics And Genomics