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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23
Brain, Volume 130, No. 7, Year 2007
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Description
Childhood ataxias are a complex set of inherited disorders. Ataxias associated with generalized tonic-clonic epilepsy are usually included with the progressive myoclonus epilepsies (PME). Five disease entities, Unverricht-Lundborg disease, Lafora's disease, neuronal ceroid lipofuscinoses, myoclonic epilepsy with ragged red fibres and sialidoses, account for the majority of PME cases. Two rare forms of ataxia plus epilepsy, sensory ataxic neuropathy, dysarthria and ophthalmoparesis, and infantile onset spinocerebellar ataxia were described recently and found to be caused by defective mitochondrial proteins. We report here a large consanguineous family from Saudi Arabia with four affected children presenting with generalized tonic-clonic epilepsy, ataxia and mental retardation, but neither myoclonus nor mental deterioration. MRI and muscle biopsy of one patient revealed, respectively, posterior white matter hyperintensities and vacuolization of the sarcotubular system. We localized the defective gene by homozygosity mapping to a 19 Mb interval in 16q21-q23 between markers D16S3091 and D16S3050. Linkage studies in this region will allow testing for homogeneity of this novel ataxia-epilepsy entity. © The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.
Authors & Co-Authors
Gribaa, Moez
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
Tunisia, Sousse
Hopital Farhat Hached Sousse
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Anheim, Mathieu
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Lagier-Tourenne, Clotilde
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
H´mida, Dorra
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
Tunisia, Sousse
Hopital Farhat Hached Sousse
Drouot, Nathalie
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
Mohamed, A.
Saudi Arabia, Al-ahsa
King Fahad Hofuf Hospital
Elmalik, Salah A.
Saudi Arabia, Riyadh
College of Medicine
Kabiraj, Mohammad Muslim Uddin
Saudi Arabia, Riyadh
Riyadh Military Hospital
Al Rayess, M.
Saudi Arabia, Riyadh
College of Medicine
Almubarak, M.
Saudi Arabia, Riyadh
College of Medicine
Bétard, Christine
France, Evry
Centre National de Recherche en Génomique Humaine
Goebel, Hansh Hilmar
Germany, Mainz
Universitätsmedizin Mainz
Kœnig, Michel
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
France, Paris
Collège de France
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Statistics
Citations: 41
Authors: 14
Affiliations: 9
Identifiers
Doi:
10.1093/brain/awm078
e-ISSN:
14602156
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health