Cognitive impairment in rapid-onset dystonia-parkinsonism.
Identifieur interne : 000645 ( PubMed/Checkpoint ); précédent : 000644; suivant : 000646Cognitive impairment in rapid-onset dystonia-parkinsonism.
Auteurs : Jared F. Cook [États-Unis] ; Deborah F. Hill ; Beverly M. Snively ; Niki Boggs ; Cynthia K. Suerken ; Ihtsham Haq ; Mark Stacy ; W Vaughn Mccall ; Laurie J. Ozelius ; Kathleen J. Sweadner ; Allison BrashearSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Cognition Disorders (complications), Cognition Disorders (genetics), Dystonia (genetics), Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Movement Disorders (genetics), Mutation (genetics), Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Sodium-Potassium-Exchanging ATPase (genetics).
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- complications : Cognition Disorders, Parkinsonian Disorders.
- genetics : Cognition Disorders, Dystonia, Movement Disorders, Mutation, Parkinsonian Disorders.
- Adult, Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged.
Abstract
Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor-manifesting mutation-positive family members, 29 mutation-negative family member controls in 9 families, and 4 unrelated RDP patients, totaling 58 individuals. We administered a movement disorder assessment, including the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Parkinson's Disease Rating Scale (UPDRS) and a cognitive battery of memory and learning, psychomotor speed, attention, and executive function. The cognitive battery was designed to evaluate a wide range of functions; recognition memory instruments were selected to be relatively pure measures of delayed memory, devoid of significant motor or vocal production limitations. Comparisons of standardized cognitive scores were assessed both with and without controlling for psychomotor speed and similarly for severity of depressive symptoms. A majority of RDP patients had onset of motor symptoms by age 25 and had initial symptom presentation in the upper body (face, mouth, or arm). Among patients, the BFMDRS (mean ± SD, 52.1 ± 29.5) and UPDRS motor subscore (29.8 ± 12.7) confirmed dystonia-parkinsonism. The affected RDP patients performed more poorly, on average, than mutation-negative controls for all memory and learning, psychomotor speed, attention, and executive function scores (all P ≤ 0.01). These differences persisted after controlling for psychomotor speed and severity of depressive symptoms. Impaired cognitive function may be a manifestation of ATP1A3 mutation and RDP.
DOI: 10.1002/mds.25790
PubMed: 24436111
Affiliations:
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Snively</name></author><author><name sortKey="Boggs, Niki" sort="Boggs, Niki" uniqKey="Boggs N" first="Niki" last="Boggs">Niki Boggs</name></author><author><name sortKey="Suerken, Cynthia K" sort="Suerken, Cynthia K" uniqKey="Suerken C" first="Cynthia K" last="Suerken">Cynthia K. Suerken</name></author><author><name sortKey="Haq, Ihtsham" sort="Haq, Ihtsham" uniqKey="Haq I" first="Ihtsham" last="Haq">Ihtsham Haq</name></author><author><name sortKey="Stacy, Mark" sort="Stacy, Mark" uniqKey="Stacy M" first="Mark" last="Stacy">Mark Stacy</name></author><author><name sortKey="Mccall, W Vaughn" sort="Mccall, W Vaughn" uniqKey="Mccall W" first="W Vaughn" last="Mccall">W Vaughn Mccall</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name></author><author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. 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Cook</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Wake Forest School of Medicine, Wake Forest Baptist Health, Winston-Salem, North Carolina, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Wake Forest School of Medicine, Wake Forest Baptist Health, Winston-Salem, North Carolina</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Hill, Deborah F" sort="Hill, Deborah F" uniqKey="Hill D" first="Deborah F" last="Hill">Deborah F. Hill</name></author><author><name sortKey="Snively, Beverly M" sort="Snively, Beverly M" uniqKey="Snively B" first="Beverly M" last="Snively">Beverly M. Snively</name></author><author><name sortKey="Boggs, Niki" sort="Boggs, Niki" uniqKey="Boggs N" first="Niki" last="Boggs">Niki Boggs</name></author><author><name sortKey="Suerken, Cynthia K" sort="Suerken, Cynthia K" uniqKey="Suerken C" first="Cynthia K" last="Suerken">Cynthia K. Suerken</name></author><author><name sortKey="Haq, Ihtsham" sort="Haq, Ihtsham" uniqKey="Haq I" first="Ihtsham" last="Haq">Ihtsham Haq</name></author><author><name sortKey="Stacy, Mark" sort="Stacy, Mark" uniqKey="Stacy M" first="Mark" last="Stacy">Mark Stacy</name></author><author><name sortKey="Mccall, W Vaughn" sort="Mccall, W Vaughn" uniqKey="Mccall W" first="W Vaughn" last="Mccall">W Vaughn Mccall</name></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name></author><author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name></author><author><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Cognition Disorders (complications)</term><term>Cognition Disorders (genetics)</term><term>Dystonia (genetics)</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (genetics)</term><term>Mutation (genetics)</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Dystonia</term><term>Movement Disorders</term><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor-manifesting mutation-positive family members, 29 mutation-negative family member controls in 9 families, and 4 unrelated RDP patients, totaling 58 individuals. We administered a movement disorder assessment, including the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Parkinson's Disease Rating Scale (UPDRS) and a cognitive battery of memory and learning, psychomotor speed, attention, and executive function. The cognitive battery was designed to evaluate a wide range of functions; recognition memory instruments were selected to be relatively pure measures of delayed memory, devoid of significant motor or vocal production limitations. Comparisons of standardized cognitive scores were assessed both with and without controlling for psychomotor speed and similarly for severity of depressive symptoms. A majority of RDP patients had onset of motor symptoms by age 25 and had initial symptom presentation in the upper body (face, mouth, or arm). Among patients, the BFMDRS (mean ± SD, 52.1 ± 29.5) and UPDRS motor subscore (29.8 ± 12.7) confirmed dystonia-parkinsonism. The affected RDP patients performed more poorly, on average, than mutation-negative controls for all memory and learning, psychomotor speed, attention, and executive function scores (all P ≤ 0.01). These differences persisted after controlling for psychomotor speed and severity of depressive symptoms. Impaired cognitive function may be a manifestation of ATP1A3 mutation and RDP.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24436111</PMID><DateCreated><Year>2014</Year><Month>03</Month><Day>18</Day></DateCreated><DateCompleted><Year>2014</Year><Month>12</Month><Day>01</Day></DateCompleted><DateRevised><Year>2015</Year><Month>03</Month><Day>11</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>3</Issue><PubDate><Year>2014</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cognitive impairment in rapid-onset dystonia-parkinsonism.</ArticleTitle><Pagination><MedlinePgn>344-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25790</ELocationID><Abstract><AbstractText>Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor-manifesting mutation-positive family members, 29 mutation-negative family member controls in 9 families, and 4 unrelated RDP patients, totaling 58 individuals. We administered a movement disorder assessment, including the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Parkinson's Disease Rating Scale (UPDRS) and a cognitive battery of memory and learning, psychomotor speed, attention, and executive function. The cognitive battery was designed to evaluate a wide range of functions; recognition memory instruments were selected to be relatively pure measures of delayed memory, devoid of significant motor or vocal production limitations. Comparisons of standardized cognitive scores were assessed both with and without controlling for psychomotor speed and similarly for severity of depressive symptoms. A majority of RDP patients had onset of motor symptoms by age 25 and had initial symptom presentation in the upper body (face, mouth, or arm). Among patients, the BFMDRS (mean ± SD, 52.1 ± 29.5) and UPDRS motor subscore (29.8 ± 12.7) confirmed dystonia-parkinsonism. The affected RDP patients performed more poorly, on average, than mutation-negative controls for all memory and learning, psychomotor speed, attention, and executive function scores (all P ≤ 0.01). These differences persisted after controlling for psychomotor speed and severity of depressive symptoms. Impaired cognitive function may be a manifestation of ATP1A3 mutation and RDP.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cook</LastName><ForeName>Jared F</ForeName><Initials>JF</Initials><AffiliationInfo><Affiliation>Department of Neurology, Wake Forest School of Medicine, Wake Forest Baptist Health, Winston-Salem, North Carolina, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hill</LastName><ForeName>Deborah F</ForeName><Initials>DF</Initials></Author><Author ValidYN="Y"><LastName>Snively</LastName><ForeName>Beverly M</ForeName><Initials>BM</Initials></Author><Author ValidYN="Y"><LastName>Boggs</LastName><ForeName>Niki</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Suerken</LastName><ForeName>Cynthia K</ForeName><Initials>CK</Initials></Author><Author ValidYN="Y"><LastName>Haq</LastName><ForeName>Ihtsham</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Stacy</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>McCall</LastName><ForeName>W Vaughn</ForeName><Initials>WV</Initials></Author><Author ValidYN="Y"><LastName>Ozelius</LastName><ForeName>Laurie J</ForeName><Initials>LJ</Initials></Author><Author ValidYN="Y"><LastName>Sweadner</LastName><ForeName>Kathleen J</ForeName><Initials>KJ</Initials></Author><Author ValidYN="Y"><LastName>Brashear</LastName><ForeName>Allison</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><DataBankList CompleteYN="Y"><DataBank><DataBankName>ClinicalTrials.gov</DataBankName><AccessionNumberList><AccessionNumber>NCT00682513</AccessionNumber></AccessionNumberList></DataBank></DataBankList><GrantList CompleteYN="Y"><Grant><GrantID>NINDS5R01NS058949-04</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS058949</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016430">Clinical Trial</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>01</Month><Day>16</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.6.3.9</RegistryNumber><NameOfSubstance UI="C488756">ATP1A3 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.3.9</RegistryNumber><NameOfSubstance UI="D000254">Sodium-Potassium-Exchanging 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UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000254">Sodium-Potassium-Exchanging ATPase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS546983</OtherID><OtherID Source="NLM">PMC3960305</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DYT-12</Keyword><Keyword MajorTopicYN="N">RDP</Keyword><Keyword MajorTopicYN="N">dystonia</Keyword><Keyword MajorTopicYN="N">rapid-onset dystonia-parkinsonism</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>7</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>10</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>11</Month><Day>6</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>1</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>1</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>1</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24436111</ArticleId><ArticleId IdType="doi">10.1002/mds.25790</ArticleId><ArticleId IdType="pmc">PMC3960305</ArticleId><ArticleId IdType="mid">NIHMS546983</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Caroline du Nord</li></region></list><tree><noCountry><name sortKey="Boggs, Niki" sort="Boggs, Niki" uniqKey="Boggs N" first="Niki" last="Boggs">Niki Boggs</name><name sortKey="Brashear, Allison" sort="Brashear, Allison" uniqKey="Brashear A" first="Allison" last="Brashear">Allison Brashear</name><name sortKey="Haq, Ihtsham" sort="Haq, Ihtsham" uniqKey="Haq I" first="Ihtsham" last="Haq">Ihtsham Haq</name><name sortKey="Hill, Deborah F" sort="Hill, Deborah F" uniqKey="Hill D" first="Deborah F" last="Hill">Deborah F. Hill</name><name sortKey="Mccall, W Vaughn" sort="Mccall, W Vaughn" uniqKey="Mccall W" first="W Vaughn" last="Mccall">W Vaughn Mccall</name><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name><name sortKey="Snively, Beverly M" sort="Snively, Beverly M" uniqKey="Snively B" first="Beverly M" last="Snively">Beverly M. Snively</name><name sortKey="Stacy, Mark" sort="Stacy, Mark" uniqKey="Stacy M" first="Mark" last="Stacy">Mark Stacy</name><name sortKey="Suerken, Cynthia K" sort="Suerken, Cynthia K" uniqKey="Suerken C" first="Cynthia K" last="Suerken">Cynthia K. Suerken</name><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name></noCountry><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Cook, Jared F" sort="Cook, Jared F" uniqKey="Cook J" first="Jared F" last="Cook">Jared F. Cook</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
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Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 000645 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:24436111
|texte= Cognitive impairment in rapid-onset dystonia-parkinsonism.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:24436111" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |