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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1
Nature Genetics, Volume 10, No. 1, Year 1995
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Description
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) is a rare neurodegenerative disorder with marked anticipation. We have mapped the ADCA type II locus to chromosome 3 by linkage analysis in a genome-wide search and found no evidence for genetic heterogeneity among four families of different geographic origins. Haplotype reconstruction initially restricted the locus to the 33 cM interval flanked by D3S1300 and D3S1276 located at 3p12–p21.1. Combined multipoint analysis, using the Zmax-1 method, further reduced the candidate interval to an 8 cM region around D3S1285. Our results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias. © 1995 Nature Publishing Group.
Authors & Co-Authors
Benomar, Ali
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Krols, Luc
Belgium, Wilrijk
Instituut Born-bunge
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Cancel, Géraldine
France, Paris
Hôpital Universitaire Pitié Salpêtrière
LeGuern, Éric
France, Paris
Hôpital Universitaire Pitié Salpêtrière
David, Gilles
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Ouhabi, Hamid
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Martín, Jean Jacques R.
Belgium, Wilrijk
Instituut Born-bunge
Dürr, Alexandra
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Zaim, Abdelhaq
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Ravisé, Nicole
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Busque, C.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Penet, Christiane
France, Paris
Hôpital Universitaire Pitié Salpêtrière
van Regemorter, Nicole V.
Belgium, Brussels
Université Libre de Bruxelles
Weissenbach, Jean S.
France, Evry
Généthon
Yahyaoui, Mohamed
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Chkili, Taïeb
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Agid, Yves A.
France, Paris
Hôpital Universitaire Pitié Salpêtrière
van Broeckhoven, Christine L.
Belgium, Wilrijk
Instituut Born-bunge
Brice, Alexis
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 155
Authors: 20
Affiliations: 5
Identifiers
Doi:
10.1038/ng0595-84
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Disability
Genetics And Genomics