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NEUROLOGY 1986;36:1279
© 1986 American Academy of Neurology

The diagnosis of Huntington's disease

Susan E. Folstein, MD, R. John Leigh, MD, Irma M. Parhad, MD and Marshal F. Folstein, MD

Departments of Psychiatry and Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD. Supported by NINCDS grant no. NS16375. Or. Leigh is currently supported by the Veterans Administration.

We investigated all patients in Maryland reported to have Huntington's disease (HD), and found considerable diagnostic inaccuracy. Fifteen percent of cases reported as HD actually had some other diagnosable condition; 11% of cases that met diagnostic criteria for HD had been given some other diagnosis. Diagnostic errors could be reduced by documentation of the family history by systematic interviewing of relatives and by demonstration of the characteristic disorder of voluntary movement in addition to chorea.

Address correspondence and reprint requests to Dr. S.E. Folstein, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 8–154, Baltimore, MD 21205.

Accepted for publication January 30, 1986.




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