Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.
Identifieur interne : 001131 ( Ncbi/Merge ); précédent : 001130; suivant : 001132Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.
Auteurs : Naheed L. Khan [Royaume-Uni] ; Wagner Horta ; Louise Eunson ; Elizabeth Graham ; Janel O. Johnson ; Shannon Chang ; Mary Davis ; Andrew Singleton ; Nicholas W. Wood ; Andrew J. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Adult, Antiparkinson Agents (adverse effects), Brazil, DNA Mutational Analysis, Dyskinesia, Drug-Induced (etiology), Dyskinesia, Drug-Induced (physiopathology), Exons (genetics), Female, Follow-Up Studies, Foot (physiopathology), Genotype, Heterozygote, Humans, Levodopa (adverse effects), Male, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), Pedigree, Point Mutation (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic : Brazil.
- drug therapy : Parkinsonian Disorders.
- ethnology : Parkinsonian Disorders.
- etiology : Dyskinesia, Drug-Induced.
- genetics : Exons, Parkinsonian Disorders, Point Mutation.
- physiopathology : Dyskinesia, Drug-Induced, Foot.
- Adult, DNA Mutational Analysis, Female, Follow-Up Studies, Genotype, Heterozygote, Humans, Male, Pedigree.
Abstract
We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.
DOI: 10.1002/mds.20335
PubMed: 15641013
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Khan</name><affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name></author><author><name sortKey="Eunson, Louise" sort="Eunson, Louise" uniqKey="Eunson L" first="Louise" last="Eunson">Louise Eunson</name></author><author><name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name></author><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O" last="Johnson">Janel O. Johnson</name></author><author><name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name></author><author><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. 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Johnson</name></author><author><name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name></author><author><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Antiparkinson Agents (adverse effects)</term><term>Brazil</term><term>DNA Mutational Analysis</term><term>Dyskinesia, Drug-Induced (etiology)</term><term>Dyskinesia, Drug-Induced (physiopathology)</term><term>Exons (genetics)</term><term>Female</term><term>Follow-Up Studies</term><term>Foot (physiopathology)</term><term>Genotype</term><term>Heterozygote</term><term>Humans</term><term>Levodopa (adverse effects)</term><term>Male</term><term>Parkinsonian Disorders (drug therapy)</term><term>Parkinsonian Disorders (ethnology)</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Parkinsonian Disorders</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term><term>Foot</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Follow-Up Studies</term><term>Genotype</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">15641013</PMID><DateCreated><Year>2005</Year><Month>04</Month><Day>13</Day></DateCreated><DateCompleted><Year>2005</Year><Month>08</Month><Day>25</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>4</Issue><PubDate><Year>2005</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.</AbstractText><CopyrightInformation>Copyright 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Khan</LastName><ForeName>Naheed L</ForeName><Initials>NL</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Horta</LastName><ForeName>Wagner</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Eunson</LastName><ForeName>Louise</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Graham</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Johnson</LastName><ForeName>Janel O</ForeName><Initials>JO</Initials></Author><Author ValidYN="Y"><LastName>Chang</LastName><ForeName>Shannon</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Mary</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-4029</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United 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MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>1</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2005</Year><Month>8</Month><Day>27</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>1</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20335</ArticleId><ArticleId IdType="pubmed">15641013</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name><name sortKey="Eunson, Louise" sort="Eunson, Louise" uniqKey="Eunson L" first="Louise" last="Eunson">Louise Eunson</name><name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name><name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O" last="Johnson">Janel O. Johnson</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L" last="Khan">Naheed L. Khan</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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