Epilepsy Research Today is a free monthly online journal that collates and summarizes the latest research about Epilepsy, including details on symptoms, causes, treatment, drugs, information.

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

Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF

Neurogenetic Clinic, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, 14 Kaplan St., Petah Tikva, Israel 49202. rachelst@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.

Published 11 January 2005 in Neurology, 64(1): 142-4.
Full-text of this article is available online (may require subscription).

© 2004-2008 Epilepsy Research Today. All Rights Reserved.