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NEUROLOGY 2005;64:142-144
© 2005 American Academy of Neurology
Brief Communications

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

R. Straussberg, MD*, L. Basel-Vanagaite, MD*, S. Kivity, MD, R. Dabby, MD, S. Cirak, MD, P. Nurnberg, PhD, T. Voit, MD, M. Mahajnah, MD, D. Inbar, MD, G. M. Saifi, PhD, J. R. Lupski, MD, PhD, V. Delague, PhD, A. Megarbane, MD, A. Richter, PhD, E. Leshinsky and S. F. Berkovic, MD

From the Neurogenetic Clinic (Drs. Straussberg, Basel-Vanagaite, and Mahajnah), Department of Child Neurology (Drs. Straussberg, Mahajnah, and Inbar), and Epilepsy Unit (Dr. Kivity), Schneider Children’s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah; Department of Medical Genetics (Dr. Basel-Vanagaite), Rabin Medical Center, Beilinson Campus, Petach Tikvah, Israel; Department of Neurology (Dr. Dabby) and Molecular Genetic Lab and Brunner Institute (E. Leshinsky), Edith Wolfson Medical Center, Holon, Israel; Department of Pediatrics and Pediatric Neurology (Drs. Cirak and Voit), University Hospital, Essen, Germany; Gene Mapping Center (Dr. Nurnberg), Max Delbruck Center for Molecular Medicine, Berlin, Germany; Department of Molecular and Human Genetics (Drs. Saifi and Lupski), Baylor College of Medicine, Houston, TX; Medical Genetics Unit (Drs. Delague and Megarbane), St. Joseph University, Beirut, Lebanon; Genetique Medicale (Dr. Richter), Hopital Sainte-Justine, Universite de Montreal, Canada; and Epilepsy Research Centre (Dr. Berkovic), University of Melbourne, Austin Health, Victoria, Australia.

Address correspondence and reprint requests to Dr. R. Straussberg, Department of Pediatrics C, Schneider Children’s Medical Center of Israel, 14 Kaplan St., Petah Tikva, Israel 49202; e-mail: rachelst{at}post.tau.ac.il

The authors describe three siblings born to consanguineous parents with early onset ataxia, dysarthria, myoclonic, generalized tonic clonic seizures, upward gaze palsy, extensor plantar reflexes, sensory neuropathy, and normal cognition. Direct screening excluded mutations in FRDA, TDP1,and SACS genes and at 8344, 3243, and 8993 positions of mitochondrial DNA. Linkage analysis excluded AOA-1, EPM1, EPM2A, EPM2B, CAMOS, and recessive ataxias linked to chromosome 9q34–9qter. This clinical constellation may represent a distinct form of early onset cerebellar ataxia.

Received November 12, 2003. Accepted in final form August 18, 2004.

*These authors contributed equally to this work.






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