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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Focal Dystonias: Current Views and Challenges for Future Research</title>
<author><name sortKey="Jinnah, H A" sort="Jinnah, H A" uniqKey="Jinnah H" first="H. A." last="Jinnah">H. A. Jinnah</name>
<affiliation><nlm:aff id="A1">Departments of Neurology, Human Genetics & Pediatrics, Emory University, Atlanta GA, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
<affiliation><nlm:aff id="A2">Department of Neurology and Psychiatry, “Sapienza” University of Rome and IRCCS Neuromed Institute, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name>
<affiliation><nlm:aff id="A3">Department of Neurological Sciences, Rush Medical College, Chicago IL, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name>
<affiliation><nlm:aff id="A4">Department of Basic Medical Sciences, Neurosciences and Sense Organs, “Aldo Moro” University of Bari, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Delong, Mahlon" sort="Delong, Mahlon" uniqKey="Delong M" first="Mahlon" last="Delong">Mahlon Delong</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Factor, Stewart" sort="Factor, Stewart" uniqKey="Factor S" first="Stewart" last="Factor">Stewart Factor</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</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><nlm:aff id="A6">National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name>
<affiliation><nlm:aff id="A7">Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff>
</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><nlm:aff id="A8">Department of Communication Sciences and Disorders, James Madison University, Harrisonburg VA, USA</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Rosen, Ami" sort="Rosen, Ami" uniqKey="Rosen A" first="Ami" last="Rosen">Ami Rosen</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23893450</idno>
<idno type="pmc">3733486</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733486</idno>
<idno type="RBID">PMC:3733486</idno>
<idno type="doi">10.1002/mds.25567</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">000E06</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000E06</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Focal Dystonias: Current Views and Challenges for Future Research</title>
<author><name sortKey="Jinnah, H A" sort="Jinnah, H A" uniqKey="Jinnah H" first="H. A." last="Jinnah">H. A. Jinnah</name>
<affiliation><nlm:aff id="A1">Departments of Neurology, Human Genetics & Pediatrics, Emory University, Atlanta GA, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
<affiliation><nlm:aff id="A2">Department of Neurology and Psychiatry, “Sapienza” University of Rome and IRCCS Neuromed Institute, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Comella, Cynthia" sort="Comella, Cynthia" uniqKey="Comella C" first="Cynthia" last="Comella">Cynthia Comella</name>
<affiliation><nlm:aff id="A3">Department of Neurological Sciences, Rush Medical College, Chicago IL, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name>
<affiliation><nlm:aff id="A4">Department of Basic Medical Sciences, Neurosciences and Sense Organs, “Aldo Moro” University of Bari, Italy</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Delong, Mahlon" sort="Delong, Mahlon" uniqKey="Delong M" first="Mahlon" last="Delong">Mahlon Delong</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Factor, Stewart" sort="Factor, Stewart" uniqKey="Factor S" first="Stewart" last="Factor">Stewart Factor</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</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><nlm:aff id="A6">National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name>
<affiliation><nlm:aff id="A7">Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</nlm:aff>
</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><nlm:aff id="A8">Department of Communication Sciences and Disorders, James Madison University, Harrisonburg VA, USA</nlm:aff>
</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><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>
</affiliation>
</author>
<author><name sortKey="Rosen, Ami" sort="Rosen, Ami" uniqKey="Rosen A" first="Ami" last="Rosen">Ami Rosen</name>
<affiliation><nlm:aff id="A5">Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</nlm:aff>
</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></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>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23893450</article-id>
<article-id pub-id-type="pmc">3733486</article-id>
<article-id pub-id-type="doi">10.1002/mds.25567</article-id>
<article-id pub-id-type="manuscript">NIHMS482895</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>The Focal Dystonias: Current Views and Challenges for Future Research</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Jinnah</surname>
<given-names>H. A.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Berardelli</surname>
<given-names>Alfredo</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Comella</surname>
<given-names>Cynthia</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Defazio</surname>
<given-names>Giovanni</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>DeLong</surname>
<given-names>Mahlon</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Factor</surname>
<given-names>Stewart</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Galpern</surname>
<given-names>Wendy R.</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hallett</surname>
<given-names>Mark</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ludlow</surname>
<given-names>Christy L.</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Perlmutter</surname>
<given-names>Joel S.</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rosen</surname>
<given-names>Ami</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
<on-behalf-of>for the Dystonia Coalition Investigators</on-behalf-of>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Departments of Neurology, Human Genetics & Pediatrics, Emory University, Atlanta GA, USA</aff>
<aff id="A2"><label>2</label>
Department of Neurology and Psychiatry, “Sapienza” University of Rome and IRCCS Neuromed Institute, Italy</aff>
<aff id="A3"><label>3</label>
Department of Neurological Sciences, Rush Medical College, Chicago IL, USA</aff>
<aff id="A4"><label>4</label>
Department of Basic Medical Sciences, Neurosciences and Sense Organs, “Aldo Moro” University of Bari, Italy</aff>
<aff id="A5"><label>5</label>
Departments of Neurology, Pediatrics & Psychiatry, Emory University, Atlanta GA, USA</aff>
<aff id="A6"><label>6</label>
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</aff>
<aff id="A7"><label>7</label>
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda MD, USA</aff>
<aff id="A8"><label>8</label>
Department of Communication Sciences and Disorders, James Madison University, Harrisonburg VA, USA</aff>
<aff id="A9"><label>9</label>
Departments of Neurology, Radiology, Neurobiology and Programs IN Occupational Therapy and Physical Therapy, Washington University, St. Louis MO, USA</aff>
<author-notes><corresp id="cor1"><bold>Corresponding author</bold>
, H. A. Jinnah, MD, PhD, Emory University School of Medicine, Departments of Neurology, Human Genetics & Pediatrics, 6300 Woodruff Memorial Building, Atlanta GA, 30322, USA, Phone: 404-727-9107, Fax: 404-712-8576, <email>hjinnah@emory.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>15</day>
<month>7</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>6</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>15</day>
<month>6</month>
<year>2014</year>
</pub-date>
<volume>28</volume>
<issue>7</issue>
<fpage>926</fpage>
<lpage>943</lpage>
<abstract><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>
</abstract>
<funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source>
<award-id>U54 NS065701 || NS</award-id>
</award-group>
<award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source>
<award-id>R01 NS040470 || NS</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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