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NEUROLOGY 2005;65:156-158
© 2005 American Academy of Neurology
Brief Communications

A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia

M. Z. Cader, DPhil, MRCP, J. L. Steckley, MSc, D. A. Dyment, DPhil, MSc, R. S. McLachlan, MD, FRCP (C) and G. C. Ebers, MA, MD, FRCP (C), FRCP, FMedSci

From the Wellcome Trust Centre for Human Genetics (Drs. Cader, Steckley, and Dyment), and Department of Clinical Neurology (Dr. Ebers), University of Oxford, Oxford, UK; and Department of Medicine (Dr. McLachlan), Shaikh Khalifa Medical Center, Abu Dhabi, United Arab Emirates.

Address correspondence and reprint requests to Prof Ebers, Department of Clinical Neurology, Woodstock Road, Oxford OX2 6HE, UK; e-mail: george.ebers{at}clinical-neurology.ox.ac.uk

Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene.

Received December 21, 2004. Accepted in final form April 5, 2005.




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