A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity
Identifieur interne : 000167 ( Pmc/Curation ); précédent : 000166; suivant : 000168A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity
Auteurs : P. Poorkaj [États-Unis] ; W. H. Raskind [États-Unis] ; J. B. Leverenz [États-Unis] ; M. Matsushita [États-Unis] ; C. P. Zabetian [États-Unis] ; A. Samii [États-Unis] ; S. Kim [États-Unis] ; N. Gazi [États-Unis] ; J. G. Nutt [États-Unis] ; J. Wolff [États-Unis] ; D. Yearout [États-Unis] ; J. L. Greenup [États-Unis] ; E. J. Steinbart [États-Unis] ; T. D. Bird [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
Abstract
The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson’s disease (PD), additional PD loci are likely to exist. We recently identified a multi-generational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant 4-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LODmax score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and 4-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.
Url:
DOI: 10.1002/mds.23085
PubMed: 20629132
PubMed Central: 3123999
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity</title>
<author><name sortKey="Poorkaj, P" sort="Poorkaj, P" uniqKey="Poorkaj P" first="P." last="Poorkaj">P. Poorkaj</name>
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<wicri:cityArea> Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A2"> Department of Medicine, University of Washington, Seattle, WA</nlm:aff>
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<wicri:cityArea> Department of Medicine, University of Washington, Seattle</wicri:cityArea>
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<author><name sortKey="Raskind, W H" sort="Raskind, W H" uniqKey="Raskind W" first="W. H." last="Raskind">W. H. Raskind</name>
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<author><name sortKey="Leverenz, J B" sort="Leverenz, J B" uniqKey="Leverenz J" first="J. B." last="Leverenz">J. B. Leverenz</name>
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<author><name sortKey="Gazi, N" sort="Gazi, N" uniqKey="Gazi N" first="N." last="Gazi">N. Gazi</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Nutt, J G" sort="Nutt, J G" uniqKey="Nutt J" first="J. G." last="Nutt">J. G. Nutt</name>
<affiliation wicri:level="2"><nlm:aff id="A7"> Department of Neurology, Oregon Health Sciences University, Portland, OR</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Oregon</region>
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<wicri:cityArea> Department of Neurology, Oregon Health Sciences University, Portland</wicri:cityArea>
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<author><name sortKey="Wolff, J" sort="Wolff, J" uniqKey="Wolff J" first="J." last="Wolff">J. Wolff</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
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<wicri:cityArea> Department of Medicine, University of Washington, Seattle</wicri:cityArea>
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<author><name sortKey="Yearout, D" sort="Yearout, D" uniqKey="Yearout D" first="D." last="Yearout">D. Yearout</name>
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<country xml:lang="fr">États-Unis</country>
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</placeName>
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<author><name sortKey="Greenup, J L" sort="Greenup, J L" uniqKey="Greenup J" first="J. L." last="Greenup">J. L. Greenup</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
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<wicri:cityArea> Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle</wicri:cityArea>
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<author><name sortKey="Steinbart, E J" sort="Steinbart, E J" uniqKey="Steinbart E" first="E. J." last="Steinbart">E. J. Steinbart</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> Department of Neurology, University of Washington, Seattle, WA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington, Seattle</wicri:cityArea>
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<author><name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<affiliation wicri:level="2"><nlm:aff id="A2"> Department of Medicine, University of Washington, Seattle, WA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Medicine, University of Washington, Seattle</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A3"> Department of Neurology, University of Washington, Seattle, WA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A4"> Geriatric, Veterans Affairs Puget Sound Health Care System, Seattle, WA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric, Veterans Affairs Puget Sound Health Care System, Seattle</wicri:cityArea>
</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="2010">2010</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson’s disease (PD), additional PD loci are likely to exist. We recently identified a multi-generational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant 4-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD<sub>max</sub>
score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and 4-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="en"><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-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">20629132</article-id>
<article-id pub-id-type="pmc">3123999</article-id>
<article-id pub-id-type="doi">10.1002/mds.23085</article-id>
<article-id pub-id-type="manuscript">NIHMS297839</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Poorkaj</surname>
<given-names>P.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Raskind</surname>
<given-names>W.H.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Leverenz</surname>
<given-names>J.B.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A5" ref-type="aff">5</xref>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Matsushita</surname>
<given-names>M.</given-names>
</name>
<degrees>BS</degrees>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zabetian</surname>
<given-names>C.P.</given-names>
</name>
<degrees>MS, MD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A4" ref-type="aff">4</xref>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Samii</surname>
<given-names>A.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kim</surname>
<given-names>S.</given-names>
</name>
<degrees>BS</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gazi</surname>
<given-names>N.</given-names>
</name>
<degrees>BS</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nutt</surname>
<given-names>J.G.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wolff</surname>
<given-names>J.</given-names>
</name>
<degrees>BS</degrees>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yearout</surname>
<given-names>D.</given-names>
</name>
<degrees>BS</degrees>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Greenup</surname>
<given-names>J.L.</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Steinbart</surname>
<given-names>E.J.</given-names>
</name>
<degrees>MA, RN</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bird</surname>
<given-names>T.D.</given-names>
</name>
<degrees>MD</degrees>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA</aff>
<aff id="A2"><label>2</label>
Department of Medicine, University of Washington, Seattle, WA</aff>
<aff id="A3"><label>3</label>
Department of Neurology, University of Washington, Seattle, WA</aff>
<aff id="A4"><label>4</label>
Geriatric, Veterans Affairs Puget Sound Health Care System, Seattle, WA</aff>
<aff id="A5"><label>5</label>
VISN 20 Mental Illness, Veterans Affairs Puget Sound Health Care System, Seattle, WA</aff>
<aff id="A6"><label>6</label>
Parkinson’s Disease Research Education Clinical Centers, Veterans Affairs Puget Sound Health Care System, Seattle, WA</aff>
<aff id="A7"><label>7</label>
Department of Neurology, Oregon Health Sciences University, Portland, OR</aff>
<author-notes><corresp id="FN1">Corresponding Author: P. Poorkaj, Box 356560, Psychiatry and Behavioral Sciences, University of Washington, 1959 NE Pacific Street, Seattle WA 98195 Phone: (206) 616-2640, FAX: (206) 543-9520, <email>pips@uw.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>27</day>
<month>5</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><day>30</day>
<month>7</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>30</day>
<month>7</month>
<year>2011</year>
</pub-date>
<volume>25</volume>
<issue>10</issue>
<fpage>1409</fpage>
<lpage>1417</lpage>
<abstract><p id="P1">The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson’s disease (PD), additional PD loci are likely to exist. We recently identified a multi-generational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant 4-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD<sub>max</sub>
score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and 4-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.</p>
</abstract>
<kwd-group><kwd>Genetic linkage</kwd>
<kwd>Parkinson’s disease/parkinsonism</kwd>
<kwd>X-linked parkinsonism</kwd>
<kwd>X-linked spastic paraparesis</kwd>
<kwd>tauopathy</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source>
<award-id>P50 NS062684-02 || NS</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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