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Kevin A. Kerber, MD; Joanna C. Jen, MD, PhD; Hane Lee, BS; Stanley F. Nelson, MD; Robert W. Baloh, MD

Arch Neurol. 2007;64(5):749-752.

Background  Multiple episodic ataxia phenotypes and genotypes have been described.

Objective  To describe a new episodic ataxia syndrome.

Design  Genomewide linkage analysis with dense single nucleotide polymorphism arrays.

Setting  University clinic.

Patients  Family with lifelong episodes of ataxia and normal interictal examination results.

Results  Suggestive linkage (logarithm of odds score, 3.27) to a 10-centimorgan region on chromosome 19q13.

Conclusion  A new dominantly inherited episodic ataxia syndrome is linked to chromosome 19q.

Author Affiliations: Division of Head and Neck Surgery (Dr Baloh), Departments of Neurology (Drs Kerber, Jen, and Baloh), Human Genetics (Ms Lee and Dr Nelson), and Psychiatry and Biobehavioral Sciences (Dr Nelson), UCLA, Los Angeles, Calif. Dr Kerber is now with the Departments of Neurology and Otolaryngology, University of Michigan, Ann Arbor.