Concordance of common movement disorders among familial cases.
Identifieur interne : 004D86 ( Ncbi/Curation ); précédent : 004D85; suivant : 004D87Concordance of common movement disorders among familial cases.
Auteurs : A H Rajput [Canada] ; M E Fenton ; D. George ; A. Rajput ; W. Wilson ; L. MccullochSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1997.
English descriptors
- KwdEn :
- Age of Onset, Aged, Disease Progression, Family Health, Female, Genetic Variation, Humans, Male, Middle Aged, Movement Disorders (drug therapy), Movement Disorders (genetics), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Retrospective Studies, Saskatchewan, Spinocerebellar Degenerations (drug therapy), Spinocerebellar Degenerations (genetics), Supranuclear Palsy, Progressive (drug therapy), Supranuclear Palsy, Progressive (genetics), Tremor (drug therapy), Tremor (genetics).
- MESH :
- geographic : Saskatchewan.
- drug therapy : Movement Disorders, Parkinson Disease, Spinocerebellar Degenerations, Supranuclear Palsy, Progressive, Tremor.
- genetics : Movement Disorders, Parkinson Disease, Spinocerebellar Degenerations, Supranuclear Palsy, Progressive, Tremor.
- Age of Onset, Aged, Disease Progression, Family Health, Female, Genetic Variation, Humans, Male, Middle Aged, Retrospective Studies.
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, whenever possible, MD diagnosis in secondary cases be based on clinical assessment.
DOI: 10.1002/mds.870120520
PubMed: 9380059
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pubmed:9380059Le document en format XML
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<author><name sortKey="Rajput, A H" sort="Rajput, A H" uniqKey="Rajput A" first="A H" last="Rajput">A H Rajput</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
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<author><name sortKey="Fenton, M E" sort="Fenton, M E" uniqKey="Fenton M" first="M E" last="Fenton">M E Fenton</name>
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<author><name sortKey="George, D" sort="George, D" uniqKey="George D" first="D" last="George">D. George</name>
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<affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
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<author><name sortKey="Fenton, M E" sort="Fenton, M E" uniqKey="Fenton M" first="M E" last="Fenton">M E Fenton</name>
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<author><name sortKey="George, D" sort="George, D" uniqKey="George D" first="D" last="George">D. George</name>
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<author><name sortKey="Rajput, A" sort="Rajput, A" uniqKey="Rajput A" first="A" last="Rajput">A. Rajput</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Disease Progression</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Movement Disorders (drug therapy)</term>
<term>Movement Disorders (genetics)</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (genetics)</term>
<term>Retrospective Studies</term>
<term>Saskatchewan</term>
<term>Spinocerebellar Degenerations (drug therapy)</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Supranuclear Palsy, Progressive (drug therapy)</term>
<term>Supranuclear Palsy, Progressive (genetics)</term>
<term>Tremor (drug therapy)</term>
<term>Tremor (genetics)</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Saskatchewan</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Movement Disorders</term>
<term>Parkinson Disease</term>
<term>Spinocerebellar Degenerations</term>
<term>Supranuclear Palsy, Progressive</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term>
<term>Parkinson Disease</term>
<term>Spinocerebellar Degenerations</term>
<term>Supranuclear Palsy, Progressive</term>
<term>Tremor</term>
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<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<term>Disease Progression</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Retrospective Studies</term>
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<front><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, whenever possible, MD diagnosis in secondary cases be based on clinical assessment.</div>
</front>
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