Skip Navigation


Brain Advance Access originally published online on April 30, 2007
Brain 2007 130(7):1921-1928; doi:10.1093/brain/awm078
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
130/7/1921    most recent
awm078v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (2)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Gribaa, M.
Right arrow Articles by Koenig, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gribaa, M.
Right arrow Articles by Koenig, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23

M. Gribaa1,10,12, M. Salih2, M. Anheim1,10,11, C. Lagier-Tourenne1,10,11, D. H'mida1,10,12, N. Drouot1,10, A. Mohamed3, S. Elmalik4, M. Kabiraj5, M. Al-Rayess6, M. Almubarak7, C. Bétard8, H. Goebel9 and M. Koenig1,10,11

1Institut de Génétique et de Biologie Moléculaire et Cellulaire, Department of Molecular Pathology, CNRS/INSERM/Université Louis Pasteur, Illkirch, France, 2Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia, 3Department of Pediatrics, King Fahad Hofuf Hospital, Saudi Arabia, 4Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, 5Division of Clinical Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia, 6Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, 7Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, 8Centre National de Génotypage, Evry, France, 9Department of Neuropathology, Johannes Gutenberg-University Medical Center, Mainz, Germany, 10Collège de France, Chaire de Génétique Humaine, Illkirch, France, 11Hôpitaux Universitaires de Strasbourg, France and 12Service de Cytogénétique et de Biologie de la Reproduction, Hôpital Farhat Hached, Sousse – Tunisie

Correspondence to: M. Koenig, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries BP10142, 67404 Illkirch cedex, France E-mail: mkoenig{at}igbmc.u-strasbg.fr

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.

Key Words: ataxia; brain imaging; homozygosity mapping; epilepsy

Abbreviations: GTC, generalized tonic clonic; MERRF, myoclonic epilepsy with ragged red fibres; PME, progressive myoclonic epilepsy

Received November 8, 2006. Revised February 12, 2007. Accepted March 15, 2007.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.