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Huntington’s disease–like 2 can present as chorea-acanthocytosis

From the Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine (Dr. Walker), New York, NY; Department of Neurogenetics and Molecular Biology (Drs. Rasmussen and Alonso), Instituto Nacional de Neurología y Neurocirugía, Mexico City, Mexico; Department of Psychiatry (Drs. Rudnicki, Holmes, and Margolis) and Program in Cellular and Molecular Medicine (Dr. Margolis), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Molecular and Human Genetics (Dr. Matsuura), Baylor College of Medicine, Houston, TX; Department of Neurology (Dr. Ashizawa), University of Texas Medical Branch, Galveston; and Genetics Ambulatory Service (B. Davidoff-Feldman), Nassau County Medical Center, East Meadow, NY.

Address correspondence and reprint requests to Dr. Ruth H. Walker, Department of Neurology, Box 1137, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029; e-mail: ruth.walker{at}mssm.edu

Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington’s disease–like 2 (HDL2). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.

Received April 3, 2003. Accepted in final form May 29, 2003.

This article has been cited by other articles:

				R. H. Walker, H. H. Jung, C. Dobson-Stone, L. Rampoldi, A. Sano, F. Tison, and A. Danek Neurologic phenotypes associated with acanthocytosis Neurology, January 9, 2007; 68(2): 92 - 98. [Abstract] [Full Text] [PDF]

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				S. Saiki, K. Sakai, M. Saiki, G. Hirose, R. H. Walker, and R. L. Margolis Huntington's disease-like 2 can present as chorea-acanthocytosis Neurology, September 14, 2004; 63(5): 939 - 940. [Full Text] [PDF]

				D J Nicholl, I Sutton, M T Dotti, S G Supple, A Danek, and M Lawden White matter abnormalities on MRI in neuroacanthocytosis J. Neurol. Neurosurg. Psychiatry, August 1, 2004; 75(8): 1200 - 1201. [Full Text] [PDF]

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