The Focal Dystonias: Current Views and Challenges for Future Research
Identifieur interne : 000752 ( Main/Exploration ); précédent : 000751; suivant : 000753The Focal Dystonias: Current Views and Challenges for Future Research
Auteurs : H. A. Jinnah [États-Unis] ; Alfredo Berardelli [Italie] ; Cynthia Comella [États-Unis] ; Giovanni Defazio [Italie] ; Mahlon Delong [États-Unis] ; Stewart Factor [États-Unis] ; Wendy R. Galpern [États-Unis] ; Mark Hallett [États-Unis] ; Christy L. Ludlow [États-Unis] ; Joel S. Perlmutter [États-Unis] ; Ami Rosen [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- classification : Dystonic Disorders.
- diagnosis : Dystonic Disorders.
- methods : Biomedical Research.
- therapy : Dystonic Disorders.
- trends : Biomedical Research.
- Humans.
Abstract
The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, where the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focussing attention on less well-understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias, as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders, and for developing novel therapeutics.
Url:
DOI: 10.1002/mds.25567
PubMed: 23893450
PubMed Central: 3733486
Affiliations:
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A." last="Jinnah">H. A. Jinnah</name><affiliation wicri:level="1"><nlm:aff id="A1">Departments of Neurology, Human Genetics & Pediatrics, Emory University, Atlanta GA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Human Genetics & Pediatrics, Emory University, Atlanta GA</wicri:regionArea><wicri:noRegion>Atlanta GA</wicri:noRegion></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Neurology and Psychiatry, “Sapienza” University of Rome and IRCCS Neuromed Institute, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology and Psychiatry, “Sapienza” University of Rome and IRCCS Neuromed Institute</wicri:regionArea><wicri:noRegion>“Sapienza” University of Rome and IRCCS Neuromed Institute</wicri:noRegion></affiliation></author><author><name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name><affiliation wicri:level="1"><nlm:aff id="A3">Department of Neurological Sciences, Rush Medical College, Chicago IL, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurological Sciences, Rush Medical College, Chicago IL</wicri:regionArea><wicri:noRegion>Chicago IL</wicri:noRegion></affiliation></author><author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Basic Medical Sciences, Neurosciences and Sense Organs, “Aldo Moro” University of Bari, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Basic Medical Sciences, Neurosciences and Sense Organs, “Aldo Moro” University of Bari</wicri:regionArea><wicri:noRegion>“Aldo Moro” University of Bari</wicri:noRegion></affiliation></author><author><name sortKey="Delong, Mahlon" sort="Delong, Mahlon" uniqKey="Delong M" first="Mahlon" last="Delong">Mahlon Delong</name><affiliation wicri:level="1"><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA</wicri:regionArea><wicri:noRegion>Atlanta GA</wicri:noRegion></affiliation></author><author><name sortKey="Factor, Stewart" sort="Factor, Stewart" uniqKey="Factor S" first="Stewart" last="Factor">Stewart Factor</name><affiliation wicri:level="1"><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA</wicri:regionArea><wicri:noRegion>Atlanta GA</wicri:noRegion></affiliation></author><author><name sortKey="Galpern, Wendy R" sort="Galpern, Wendy R" uniqKey="Galpern W" first="Wendy R." last="Galpern">Wendy R. Galpern</name><affiliation wicri:level="1"><nlm:aff id="A6">National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD</wicri:regionArea><wicri:noRegion>Bethesda MD</wicri:noRegion></affiliation></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><affiliation wicri:level="1"><nlm:aff id="A7">Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD</wicri:regionArea><wicri:noRegion>Bethesda MD</wicri:noRegion></affiliation></author><author><name sortKey="Ludlow, Christy L" sort="Ludlow, Christy L" uniqKey="Ludlow C" first="Christy L." last="Ludlow">Christy L. Ludlow</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Communication Sciences and Disorders, James Madison University, Harrisonburg VA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Communication Sciences and Disorders, James Madison University, Harrisonburg VA</wicri:regionArea><wicri:noRegion>Harrisonburg VA</wicri:noRegion></affiliation></author><author><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name><affiliation wicri:level="1"><nlm:aff id="A9">Departments of Neurology, Radiology, Neurobiology and Programs IN Occupational Therapy and Physical Therapy, Washington University, St. Louis MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Radiology, Neurobiology and Programs IN Occupational Therapy and Physical Therapy, Washington University, St. Louis MO</wicri:regionArea><wicri:noRegion>St. Louis MO</wicri:noRegion></affiliation></author><author><name sortKey="Rosen, Ami" sort="Rosen, Ami" uniqKey="Rosen A" first="Ami" last="Rosen">Ami Rosen</name><affiliation wicri:level="1"><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA</wicri:regionArea><wicri:noRegion>Atlanta GA</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biomedical Research (methods)</term><term>Biomedical Research (trends)</term><term>Dystonic Disorders (classification)</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (therapy)</term><term>Humans</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Biomedical Research</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="trends" xml:lang="en"><term>Biomedical Research</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, where the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focussing attention on less well-understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias, as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders, and for developing novel therapeutics.</p></div></front></TEI><affiliations><list><country><li>Italie</li><li>États-Unis</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Jinnah, H A" sort="Jinnah, H A" uniqKey="Jinnah H" first="H. A." last="Jinnah">H. A. Jinnah</name></noRegion><name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name><name sortKey="Delong, Mahlon" sort="Delong, Mahlon" uniqKey="Delong M" first="Mahlon" last="Delong">Mahlon Delong</name><name sortKey="Factor, Stewart" sort="Factor, Stewart" uniqKey="Factor S" first="Stewart" last="Factor">Stewart Factor</name><name sortKey="Galpern, Wendy R" sort="Galpern, Wendy R" uniqKey="Galpern W" first="Wendy R." last="Galpern">Wendy R. Galpern</name><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><name sortKey="Ludlow, Christy L" sort="Ludlow, Christy L" uniqKey="Ludlow C" first="Christy L." last="Ludlow">Christy L. Ludlow</name><name sortKey="Perlmutter, Joel S" sort="Perlmutter, Joel S" uniqKey="Perlmutter J" first="Joel S." last="Perlmutter">Joel S. Perlmutter</name><name sortKey="Rosen, Ami" sort="Rosen, Ami" uniqKey="Rosen A" first="Ami" last="Rosen">Ami Rosen</name></country><country name="Italie"><noRegion><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name></noRegion><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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