Essential pitfalls in "essential" tremor.
Identifieur interne : 000077 ( PubMed/Checkpoint ); précédent : 000076; suivant : 000078Essential pitfalls in "essential" tremor.
Auteurs : Alberto J. Espay [États-Unis] ; Anthony E. Lang [Canada] ; Roberto Erro [Italie] ; Aristide Merola [États-Unis] ; Alfonso Fasano [Canada] ; Alfredo Berardelli [Italie] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2017.
Abstract
Although essential tremor has been considered the most common movement disorder, it has largely remained a diagnosis of exclusion: many tremor and nontremor features must be absent for the clinical diagnosis to stand. The clinical features of "essential tremor" overlap with or may be part of other tremor disorders and, not surprisingly, this prevalent familial disorder has remained without a gene identified, without a consistent natural history, and without an acceptable pathology or pathophysiologic underpinning. The collective evidence suggests that under the rubric of essential tremor there exists multiple unique diseases, some of which represent cerebellar dysfunction, but for which there is no intrinsic "essence" other than a common oscillatory behavior on posture and action. One approach may be to use the term essential tremor only as a transitional node in the deep phenotyping of tremor disorders based on historical, phenomenological, and neurophysiological features to facilitate its etiologic diagnosis or serve for future gene- and biomarker-discovery efforts. This approach deemphasizes essential tremor as a diagnostic entity and facilitates the understanding of the underlying disorders to develop biologically tailored diagnostic and therapeutic strategies. © 2017 International Parkinson and Movement Disorder Society.
DOI: 10.1002/mds.26919
PubMed: 28116753
Affiliations:
- Canada, Italie, Royaume-Uni, États-Unis
- Angleterre, Grand Londres, Latium, Ohio, Ontario
- Londres, Rome, Toronto
- University College de Londres, Université de Toronto
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Espay</name><affiliation wicri:level="2"><nlm:affiliation>UC Gardner Neuroscience Institute, Department of Neurology, Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>UC Gardner Neuroscience Institute, Department of Neurology, Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><nlm:affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and The Edmond J. Safra Program in PD, Toronto, Ontario, Canada, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and The Edmond J. 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Safra Program in PD, Toronto, Ontario, Canada, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology and Psychiatry, "Sapienza" University of Rome, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology and Psychiatry, "Sapienza" University of Rome, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="4"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">University College de Londres</orgName></affiliation></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="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Although essential tremor has been considered the most common movement disorder, it has largely remained a diagnosis of exclusion: many tremor and nontremor features must be absent for the clinical diagnosis to stand. The clinical features of "essential tremor" overlap with or may be part of other tremor disorders and, not surprisingly, this prevalent familial disorder has remained without a gene identified, without a consistent natural history, and without an acceptable pathology or pathophysiologic underpinning. The collective evidence suggests that under the rubric of essential tremor there exists multiple unique diseases, some of which represent cerebellar dysfunction, but for which there is no intrinsic "essence" other than a common oscillatory behavior on posture and action. One approach may be to use the term essential tremor only as a transitional node in the deep phenotyping of tremor disorders based on historical, phenomenological, and neurophysiological features to facilitate its etiologic diagnosis or serve for future gene- and biomarker-discovery efforts. This approach deemphasizes essential tremor as a diagnostic entity and facilitates the understanding of the underlying disorders to develop biologically tailored diagnostic and therapeutic strategies. © 2017 International Parkinson and Movement Disorder Society.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28116753</PMID><DateCreated><Year>2017</Year><Month>01</Month><Day>24</Day></DateCreated><DateRevised><Year>2017</Year><Month>03</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>32</Volume><Issue>3</Issue><PubDate><Year>2017</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Essential pitfalls in "essential" tremor.</ArticleTitle><Pagination><MedlinePgn>325-331</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26919</ELocationID><Abstract><AbstractText>Although essential tremor has been considered the most common movement disorder, it has largely remained a diagnosis of exclusion: many tremor and nontremor features must be absent for the clinical diagnosis to stand. The clinical features of "essential tremor" overlap with or may be part of other tremor disorders and, not surprisingly, this prevalent familial disorder has remained without a gene identified, without a consistent natural history, and without an acceptable pathology or pathophysiologic underpinning. The collective evidence suggests that under the rubric of essential tremor there exists multiple unique diseases, some of which represent cerebellar dysfunction, but for which there is no intrinsic "essence" other than a common oscillatory behavior on posture and action. One approach may be to use the term essential tremor only as a transitional node in the deep phenotyping of tremor disorders based on historical, phenomenological, and neurophysiological features to facilitate its etiologic diagnosis or serve for future gene- and biomarker-discovery efforts. This approach deemphasizes essential tremor as a diagnostic entity and facilitates the understanding of the underlying disorders to develop biologically tailored diagnostic and therapeutic strategies. © 2017 International Parkinson and Movement Disorder Society.</AbstractText><CopyrightInformation>© 2017 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Espay</LastName><ForeName>Alberto J</ForeName><Initials>AJ</Initials><AffiliationInfo><Affiliation>UC Gardner Neuroscience Institute, Department of Neurology, Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lang</LastName><ForeName>Anthony E</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and The Edmond J. Safra Program in PD, Toronto, Ontario, Canada, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Krembil Research Institute, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Erro</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Biomedicine and Movement Science, University of Verona, Verona, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Merola</LastName><ForeName>Aristide</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>UC Gardner Neuroscience Institute, Department of Neurology, Gardner Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Ohio, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fasano</LastName><ForeName>Alfonso</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital and The Edmond J. Safra Program in PD, Toronto, Ontario, Canada, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Krembil Research Institute, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Berardelli</LastName><ForeName>Alfredo</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Neurology and Psychiatry, "Sapienza" University of Rome, Rome, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>IRCCS Neuromed, Pozzilli, IS, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>K23 MH092735</GrantID><Acronym>MH</Acronym><Agency>NIMH NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>01</Month><Day>24</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2002 Apr 15;11(8):971-9</RefSource><PMID Version="1">11971878</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2011 Jan;26(1):18-23</RefSource><PMID Version="1">21322015</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2009 Oct;66(10):1202-8</RefSource><PMID 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Version="1">16297839</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">biomarkers</Keyword><Keyword MajorTopicYN="N">essential tremor</Keyword><Keyword MajorTopicYN="N">nomenclature</Keyword><Keyword MajorTopicYN="N">tremor</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>10</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>12</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>12</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="pmc-release"><Year>2018</Year><Month>03</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28116753</ArticleId><ArticleId IdType="doi">10.1002/mds.26919</ArticleId><ArticleId IdType="pmc">PMC5359065</ArticleId><ArticleId IdType="mid">NIHMS839519</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>Italie</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Latium</li><li>Ohio</li><li>Ontario</li></region><settlement><li>Londres</li><li>Rome</li><li>Toronto</li></settlement><orgName><li>University College de Londres</li><li>Université de Toronto</li></orgName></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J" last="Espay">Alberto J. Espay</name></region><name sortKey="Merola, Aristide" sort="Merola, Aristide" uniqKey="Merola A" first="Aristide" last="Merola">Aristide Merola</name></country><country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name></region><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name></country><country name="Italie"><noRegion><name sortKey="Erro, Roberto" sort="Erro, Roberto" uniqKey="Erro R" first="Roberto" last="Erro">Roberto Erro</name></noRegion><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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