Complicated recessive dystonia parkinsonism syndromes.
Identifieur interne : 001E54 ( PubMed/Corpus ); précédent : 001E53; suivant : 001E55Complicated recessive dystonia parkinsonism syndromes.
Auteurs : Susanne A. Schneider ; Kailash P. Bhatia ; John HardySource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Brain (metabolism), Brain (pathology), Diagnosis, Differential, Dystonia (complications), Dystonia (diagnosis), Dystonia (genetics), F-Box Proteins (genetics), Group VI Phospholipases A2 (genetics), Histone Acetyltransferases, Humans, Intracellular Signaling Peptides and Proteins (genetics), Iron (metabolism), Mutation, Neurodegenerative Diseases (complications), Oncogene Proteins (genetics), Parkinsonian Disorders (complications), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Protein Kinases (genetics), TATA-Binding Protein Associated Factors (genetics), Transcription Factor TFIID (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : F-Box Proteins, Group VI Phospholipases A2, Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, TATA-Binding Protein Associated Factors, Transcription Factor TFIID, Ubiquitin-Protein Ligases.
- complications : Dystonia, Neurodegenerative Diseases, Parkinsonian Disorders.
- diagnosis : Dystonia, Parkinsonian Disorders.
- genetics : Dystonia, Parkinsonian Disorders.
- metabolism : Brain, Iron.
- pathology : Brain.
- Diagnosis, Differential, Histone Acetyltransferases, Humans, Mutation.
Abstract
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.
DOI: 10.1002/mds.22314
PubMed: 19185014
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pubmed:19185014Le document en format XML
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Bhatia</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22314</idno><idno type="RBID">pubmed:19185014</idno><idno type="pmid">19185014</idno><idno type="wicri:Area/PubMed/Corpus">001E54</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Complicated recessive dystonia parkinsonism syndromes.</title><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Diagnosis, Differential</term><term>Dystonia (complications)</term><term>Dystonia (diagnosis)</term><term>Dystonia (genetics)</term><term>F-Box Proteins (genetics)</term><term>Group VI Phospholipases A2 (genetics)</term><term>Histone Acetyltransferases</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Iron (metabolism)</term><term>Mutation</term><term>Neurodegenerative Diseases (complications)</term><term>Oncogene Proteins (genetics)</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Protein Kinases (genetics)</term><term>TATA-Binding Protein Associated Factors (genetics)</term><term>Transcription Factor TFIID (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>F-Box Proteins</term><term>Group VI Phospholipases A2</term><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>TATA-Binding Protein Associated Factors</term><term>Transcription Factor TFIID</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Neurodegenerative Diseases</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Iron</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Diagnosis, Differential</term><term>Histone Acetyltransferases</term><term>Humans</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19185014</PMID><DateCreated><Year>2009</Year><Month>05</Month><Day>11</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2015</Year><Month>01</Month><Day>14</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>4</Issue><PubDate><Year>2009</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Complicated recessive dystonia parkinsonism syndromes.</ArticleTitle><Pagination><MedlinePgn>490-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22314</ELocationID><Abstract><AbstractText>In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of investigations, and response to treatment of gene-proven cases. We concentrate on PANK2-, PLA2G6-, ATP13A2-, FBX07, TAF1-, and PRKRA-associated neurodegeneration. Parkin, PINK1, and DJ-1 are also briefly reviewed.</AbstractText><CopyrightInformation>2009 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>Susanne A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D044783">F-Box Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489149">FBXO7 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D047908">Intracellular Signaling Peptides and Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D015513">Oncogene 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MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044783">F-Box Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D054522">Group VI Phospholipases A2</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051548">Histone Acetyltransferases</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D047908">Intracellular Signaling Peptides and Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007501">Iron</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019636">Neurodegenerative Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015513">Oncogene Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName 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