Document Detail

Validity of family history data on essential tremor.
MedLine Citation:
PMID:  10348469     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: 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. OBJECTIVE: To determine the validity of family history data on ET in families in which the proband has ET. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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.
E D Louis; B Ford; K J Wendt; R Ottman
Related Documents :
11119759 - Dominant transmission of imperforate hymen.
18520419 - Familial lambdoid craniosynostosis between father and son.
9544909 - Presenting signs of retinoblastoma.
8370149 - Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in fem...
6451669 - Early detection of huntington's disease. blink reflex and levodopa load in presymptomat...
16223449 - Familial clustering of leiomyomatosis peritonealis disseminata: an unknown genetic synd...
17361259 - Giant cell arteritis presenting with aortic aneurysm, normal erythrocyte sedimentation ...
10722139 - Hepatitis a in new south wales, australia from consumption of oysters: the first report...
21778279 - Simultaneous necrotizing glomerulonephritis and hodgkin's lymphoma: a case report and r...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  14     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  1999 May 
Date Detail:
Created Date:  1999-09-17     Completed Date:  1999-09-17     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  456-61     Citation Subset:  IM    
Department of Neurology, the Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Aged, 80 and over
Sensitivity and Specificity
Severity of Illness Index
Tremor / diagnosis,  genetics*
Video Recording
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Clinical rating of dyskinesias in Parkinson's disease: use and reliability of a new rating scale.
Next Document:  A comparison of different bedside tests for essential tremor.