Validity of family history data on essential tremor
Version of Record online: 23 JAN 2001
Copyright © 1999 Movement Disorder Society
Volume 14, Issue 3, pages 456–461, May 1999
How to Cite
Louis, E. D., Ford, B., Wendt, K. J. and Ottman, R. (1999), Validity of family history data on essential tremor. Mov. Disord., 14: 456–461. doi: 10.1002/1531-8257(199905)14:3<456::AID-MDS1011>3.0.CO;2-X
- Issue online: 23 JAN 2001
- Version of Record online: 23 JAN 2001
- Manuscript Accepted: 3 MAR 1999
- Manuscript Revised: 17 FEB 1999
- Manuscript Received: 19 NOV 1998
- National Institutes of Health, Bethesda, MD. Grant Number: NS01863
- the Paul Beeson Physician Faculty Scholars in Aging Research Award (American Federation for Aging Research, New York, NY)
- Essential tremor;
- Family history;
In family studies of essential tremor (ET), valid data on the presence of ET in relatives of probands with ET is important. The family history method uses information obtained by interviewing probands with ET to identify ET in their relatives. The validation of this method by direct examination of the relatives has not been performed.
To determine the validity of family history data on ET in families in which the proband has ET.
ET cases (probands) and their respective relatives were enrolled in a genetic study of ET in Washington Heights-Inwood, New York. Each underwent a tremor interview and videotaped examination. Two neurologists rated the severity of tremor and assigned diagnoses (ET versus normal). Probands were asked to identify their relatives who had ET. The validity of the probands' responses was tested against the neurologists' diagnoses.
There were 206 subjects: 46 ET cases and 160 relatives. Twelve (7.5%) of 160 relatives were diagnosed with ET (four definite ET and eight probable ET). Probands with ET reported that two of these 12 had tremor (sensitivity of probands' report = 16.7%). Six of the 12 affected relatives (50.0%) reported their own tremor. The probands reported that one of 136 of their unaffected relatives had tremor (specificity of probands' report = 99.3%).
For family studies of ET, information on reportedly unaffected relatives is of limited use given the low sensitivity of family history data. The neurologic examination remains the only valid means of ascertaining cases of ET among relatives.