Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates
Identifieur interne : 000002 ( Pmc/Corpus ); précédent : 000001; suivant : 000003Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates
Auteurs : Sébastien Jacquemont ; Randi J. Hagerman ; Maureen Leehey ; Jim Grigsby ; Lin Zhang ; James A. Brunberg ; Claudia Greco ; Vincent Des Portes ; Tristan Jardini ; Richard Levine ; Elizabeth Berry-Kravis ; W. Ted Brown ; Stephane Schaeffer ; John Kissel ; Flora Tassone ; Paul J. HagermanSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2003.
Abstract
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation–associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
Url:
PubMed: 12638084
PubMed Central: 1180350
Links to Exploration step
PMC:1180350Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates</title>
<author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Leehey, Maureen" sort="Leehey, Maureen" uniqKey="Leehey M" first="Maureen" last="Leehey">Maureen Leehey</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, University of Colorado Health Sciences Center, Denver;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, University of Colorado Health Sciences Center, Denver;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Neurology,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brunberg, James A" sort="Brunberg, James A" uniqKey="Brunberg J" first="James A." last="Brunberg">James A. Brunberg</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Radiology, University of California Davis Medical Center, Sacramento, CA; Department of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Greco, Claudia" sort="Greco, Claudia" uniqKey="Greco C" first="Claudia" last="Greco">Claudia Greco</name>
<affiliation><nlm:aff wicri:cut=", and" id="N0x8a5d600.0x8bc1140">Pathology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Levine, Richard" sort="Levine, Richard" uniqKey="Levine R" first="Richard" last="Levine">Richard Levine</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Mathematics and Statistics, San Diego State University, San Diego</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Pediatrics, Rush-Presbyterian–St. Luke's Medical Center, Chicago;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brown, W Ted" sort="Brown, W Ted" uniqKey="Brown W" first="W. Ted" last="Brown">W. Ted Brown</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Schaeffer, Stephane" sort="Schaeffer, Stephane" uniqKey="Schaeffer S" first="Stephane" last="Schaeffer">Stephane Schaeffer</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kissel, John" sort="Kissel, John" uniqKey="Kissel J" first="John" last="Kissel">John Kissel</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, Ohio State University Medical Center, Columbus, OH;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Biological Chemistry, University of California, Davis, School of Medicine, Davis, CA;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">12638084</idno>
<idno type="pmc">1180350</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180350</idno>
<idno type="RBID">PMC:1180350</idno>
<date when="2003">2003</date>
<idno type="wicri:Area/Pmc/Corpus">000002</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000002</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates</title>
<author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Leehey, Maureen" sort="Leehey, Maureen" uniqKey="Leehey M" first="Maureen" last="Leehey">Maureen Leehey</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, University of Colorado Health Sciences Center, Denver;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, University of Colorado Health Sciences Center, Denver;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Zhang, Lin" sort="Zhang, Lin" uniqKey="Zhang L" first="Lin" last="Zhang">Lin Zhang</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Neurology,</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brunberg, James A" sort="Brunberg, James A" uniqKey="Brunberg J" first="James A." last="Brunberg">James A. Brunberg</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Radiology, University of California Davis Medical Center, Sacramento, CA; Department of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Greco, Claudia" sort="Greco, Claudia" uniqKey="Greco C" first="Claudia" last="Greco">Claudia Greco</name>
<affiliation><nlm:aff wicri:cut=", and" id="N0x8a5d600.0x8bc1140">Pathology</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Des Portes, Vincent" sort="Des Portes, Vincent" uniqKey="Des Portes V" first="Vincent" last="Des Portes">Vincent Des Portes</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Levine, Richard" sort="Levine, Richard" uniqKey="Levine R" first="Richard" last="Levine">Richard Levine</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Mathematics and Statistics, San Diego State University, San Diego</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Pediatrics, Rush-Presbyterian–St. Luke's Medical Center, Chicago;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brown, W Ted" sort="Brown, W Ted" uniqKey="Brown W" first="W. Ted" last="Brown">W. Ted Brown</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Schaeffer, Stephane" sort="Schaeffer, Stephane" uniqKey="Schaeffer S" first="Stephane" last="Schaeffer">Stephane Schaeffer</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">M.I.N.D. Institute and Departments of</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kissel, John" sort="Kissel, John" uniqKey="Kissel J" first="John" last="Kissel">John Kissel</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Department of Neurology, Ohio State University Medical Center, Columbus, OH;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name>
<affiliation><nlm:aff id="N0x8a5d600.0x8bc1140">Biological Chemistry, University of California, Davis, School of Medicine, Davis, CA;</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J." last="Hagerman">Paul J. Hagerman</name>
<affiliation><nlm:aff>NONE</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation–associated tremor/ataxia syndrome and distinguishes it from other movement disorders.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-id journal-id-type="publisher-id">AJHG</journal-id>
<journal-title>American Journal of Human Genetics</journal-title>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>The American Society of Human Genetics</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">12638084</article-id>
<article-id pub-id-type="pmc">1180350</article-id>
<article-id pub-id-type="publisher-id">024589</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title>Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates</article-title>
<alt-title>Fragile X Tremor/Ataxia</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Jacquemont</surname>
<given-names>Sébastien</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hagerman</surname>
<given-names>Randi J.</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1,2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leehey</surname>
<given-names>Maureen</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Grigsby</surname>
<given-names>Jim</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zhang</surname>
<given-names>Lin</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brunberg</surname>
<given-names>James A.</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Greco</surname>
<given-names>Claudia</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Des Portes</surname>
<given-names>Vincent</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jardini</surname>
<given-names>Tristan</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Levine</surname>
<given-names>Richard</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Berry-Kravis</surname>
<given-names>Elizabeth</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brown</surname>
<given-names>W. Ted</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schaeffer</surname>
<given-names>Stephane</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kissel</surname>
<given-names>John</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tassone</surname>
<given-names>Flora</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hagerman</surname>
<given-names>Paul J.</given-names>
</name>
<xref ref-type="aff" rid="N0x8a5d600.0x8bc1140">1,6</xref>
</contrib>
</contrib-group>
<aff id="N0x8a5d600.0x8bc1140"><sup>1</sup>
M.I.N.D. Institute and Departments of<sup>2</sup>
Pediatrics,<sup>3</sup>
Neurology,<sup>4</sup>
Pathology, and<sup>5</sup>
Radiology, University of California Davis Medical Center, Sacramento, CA; Department of<sup>6</sup>
Biological Chemistry, University of California, Davis, School of Medicine, Davis, CA;<sup>7</sup>
Department of Neurology, University of Colorado Health Sciences Center, Denver;<sup>8</sup>
Department of Pediatrics, Rush-Presbyterian–St. Luke's Medical Center, Chicago;<sup>9</sup>
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY;<sup>10</sup>
Department of Neurology, Ohio State University Medical Center, Columbus, OH;<sup>11</sup>
Service de Neurologie, Centre Hospitalier Universitaire de Caen, Caen, France; and<sup>12</sup>
Department of Mathematics and Statistics, San Diego State University, San Diego</aff>
<author-notes><corresp>Address for correspondence and reprints: Dr. R. Hagerman, M.I.N.D. Institute, UC Davis Medical Center, 4860 Y Street, Suite 3020, Sacramento, CA 95817. E-mail: <email>randi.hagerman@ucdmc.udavis.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>4</month>
<year>2003</year>
</pub-date>
<pub-date pub-type="epub"><day>12</day>
<month>3</month>
<year>2003</year>
</pub-date>
<volume>72</volume>
<issue>4</issue>
<fpage>869</fpage>
<lpage>878</lpage>
<history><date date-type="received"><day>14</day>
<month>10</month>
<year>2002</year>
</date>
<date date-type="accepted"><day>6</day>
<month>1</month>
<year>2003</year>
</date>
</history>
<copyright-statement>© 2003 by The American Society of Human Genetics. All rights reserved.</copyright-statement>
<copyright-year>2003</copyright-year>
<self-uri>12638084</self-uri>
<abstract><p>We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation–associated tremor/ataxia syndrome and distinguishes it from other movement disorders.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000002 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000002 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:1180350 |texte= Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:12638084" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonFranceV1
![]() | This area was generated with Dilib version V0.6.29. | ![]() |