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Concordance of common movement disorders among familial cases

Identifieur interne : 002044 ( Main/Exploration ); précédent : 002043; suivant : 002045

Concordance of common movement disorders among familial cases

Auteurs : Rajput [Canada] ; M. E. Fenton [Canada] ; D. George [Canada] ; Alex Rajput [États-Unis] ; W. Wilson [Canada] ; L. Mcculloch [Canada]

Source :

RBID : ISTEX:73D6BBFD94DB0284705AD346CD3CBC87A70E95C2

English descriptors

Abstract

Multicase families are frequently utilized in studies of movement disorders (MDs). We report families with two or more MD cases seen at the Movement Disorder Clinic, Saskatoon (MDCS). In 30% of the MD probands, there was either a history or documentation of at least one secondary MD case in the family. Only those MD cases that were seen at the MDCS were considered in this study. A total of 56 probands and 77 secondary MD cases were seen at the MDCS between 1968 and 1996. In 24 (31.2%) of the secondary cases, the diagnosis was different from that in the proband. In 46 families (82%), only one secondary case was seen, and the diagnosis was concordant with the proband in 71.7%. In the remaining 10 families with two or more secondary cases, the diagnosis was concordant in 64.5% of cases. The largest subgroup was Parkinson's disease (PD)—40 probands and 53 secondary cases. Of these secondary cases, 73.6% had PD. The concordance rate was 91% in essential tremor, but only 12.5% if the proband had essential tremor + parkinsonism. Considering that a large proportion of secondary cases have a diagnosis discordant with the proband, we recommend that, wherever possible, MD diagnosis in secondary cases be based on clinical assessment.

Url:
DOI: 10.1002/mds.870120520


Affiliations:


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Le document en format XML

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<div type="abstract" xml:lang="en">Multicase families are frequently utilized in studies of movement disorders (MDs). We report families with two or more MD cases seen at the Movement Disorder Clinic, Saskatoon (MDCS). In 30% of the MD probands, there was either a history or documentation of at least one secondary MD case in the family. Only those MD cases that were seen at the MDCS were considered in this study. A total of 56 probands and 77 secondary MD cases were seen at the MDCS between 1968 and 1996. In 24 (31.2%) of the secondary cases, the diagnosis was different from that in the proband. In 46 families (82%), only one secondary case was seen, and the diagnosis was concordant with the proband in 71.7%. In the remaining 10 families with two or more secondary cases, the diagnosis was concordant in 64.5% of cases. The largest subgroup was Parkinson's disease (PD)—40 probands and 53 secondary cases. Of these secondary cases, 73.6% had PD. The concordance rate was 91% in essential tremor, but only 12.5% if the proband had essential tremor + parkinsonism. Considering that a large proportion of secondary cases have a diagnosis discordant with the proband, we recommend that, wherever possible, MD diagnosis in secondary cases be based on clinical assessment.</div>
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