Movement Disorders (revue)

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A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity

Identifieur interne : 002C70 ( Ncbi/Checkpoint ); précédent : 002C69; suivant : 002C71

A 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 :

RBID : PMC:3123999

English descriptors

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


Affiliations:


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PMC:3123999

Le document en format XML

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<title xml:lang="en" level="a" type="main">A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity</title>
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<name sortKey="Kim, S" sort="Kim, S" uniqKey="Kim S" first="S." last="Kim">S. Kim</name>
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<author>
<name sortKey="Wolff, J" sort="Wolff, J" uniqKey="Wolff J" first="J." last="Wolff">J. Wolff</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>
</affiliation>
</author>
<author>
<name sortKey="Yearout, D" sort="Yearout, D" uniqKey="Yearout D" first="D." last="Yearout">D. Yearout</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>
</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>
<author>
<name sortKey="Greenup, J L" sort="Greenup, J L" uniqKey="Greenup J" first="J. L." last="Greenup">J. L. Greenup</name>
<affiliation wicri:level="2">
<nlm:aff id="A1"> Department of Psychiatry and Behavioral Sciences, 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 Psychiatry and Behavioral Sciences, University of Washington, Seattle</wicri:cityArea>
</affiliation>
</author>
<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>
</affiliation>
</author>
<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>
</affiliation>
<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>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosomes, Human, X (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Genes, X-Linked (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Microsatellite Repeats (genetics)</term>
<term>Middle Aged</term>
<term>Parkinson Disease (complications)</term>
<term>Tauopathies (complications)</term>
<term>Tauopathies (genetics)</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en">
<term>Parkinson Disease</term>
<term>Tauopathies</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Chromosomes, Human, X</term>
<term>Genes, X-Linked</term>
<term>Microsatellite Repeats</term>
<term>Tauopathies</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
<affiliations>
<list>
<country>
<li>États-Unis</li>
</country>
<region>
<li>Oregon</li>
<li>Washington (État)</li>
</region>
</list>
<tree>
<country name="États-Unis">
<region name="Washington (État)">
<name sortKey="Poorkaj, P" sort="Poorkaj, P" uniqKey="Poorkaj P" first="P." last="Poorkaj">P. Poorkaj</name>
</region>
<name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<name sortKey="Gazi, N" sort="Gazi, N" uniqKey="Gazi N" first="N." last="Gazi">N. Gazi</name>
<name sortKey="Greenup, J L" sort="Greenup, J L" uniqKey="Greenup J" first="J. L." last="Greenup">J. L. Greenup</name>
<name sortKey="Kim, S" sort="Kim, S" uniqKey="Kim S" first="S." last="Kim">S. Kim</name>
<name sortKey="Leverenz, J B" sort="Leverenz, J B" uniqKey="Leverenz J" first="J. B." last="Leverenz">J. B. Leverenz</name>
<name sortKey="Leverenz, J B" sort="Leverenz, J B" uniqKey="Leverenz J" first="J. B." last="Leverenz">J. B. Leverenz</name>
<name sortKey="Leverenz, J B" sort="Leverenz, J B" uniqKey="Leverenz J" first="J. B." last="Leverenz">J. B. Leverenz</name>
<name sortKey="Leverenz, J B" sort="Leverenz, J B" uniqKey="Leverenz J" first="J. B." last="Leverenz">J. B. Leverenz</name>
<name sortKey="Matsushita, M" sort="Matsushita, M" uniqKey="Matsushita M" first="M." last="Matsushita">M. Matsushita</name>
<name sortKey="Nutt, J G" sort="Nutt, J G" uniqKey="Nutt J" first="J. G." last="Nutt">J. G. Nutt</name>
<name sortKey="Poorkaj, P" sort="Poorkaj, P" uniqKey="Poorkaj P" first="P." last="Poorkaj">P. Poorkaj</name>
<name sortKey="Raskind, W H" sort="Raskind, W H" uniqKey="Raskind W" first="W. H." last="Raskind">W. H. Raskind</name>
<name sortKey="Raskind, W H" sort="Raskind, W H" uniqKey="Raskind W" first="W. H." last="Raskind">W. H. Raskind</name>
<name sortKey="Raskind, W H" sort="Raskind, W H" uniqKey="Raskind W" first="W. H." last="Raskind">W. H. Raskind</name>
<name sortKey="Samii, A" sort="Samii, A" uniqKey="Samii A" first="A." last="Samii">A. Samii</name>
<name sortKey="Samii, A" sort="Samii, A" uniqKey="Samii A" first="A." last="Samii">A. Samii</name>
<name sortKey="Steinbart, E J" sort="Steinbart, E J" uniqKey="Steinbart E" first="E. J." last="Steinbart">E. J. Steinbart</name>
<name sortKey="Wolff, J" sort="Wolff, J" uniqKey="Wolff J" first="J." last="Wolff">J. Wolff</name>
<name sortKey="Yearout, D" sort="Yearout, D" uniqKey="Yearout D" first="D." last="Yearout">D. Yearout</name>
<name sortKey="Yearout, D" sort="Yearout, D" uniqKey="Yearout D" first="D." last="Yearout">D. Yearout</name>
<name sortKey="Zabetian, C P" sort="Zabetian, C P" uniqKey="Zabetian C" first="C. P." last="Zabetian">C. P. Zabetian</name>
<name sortKey="Zabetian, C P" sort="Zabetian, C P" uniqKey="Zabetian C" first="C. P." last="Zabetian">C. P. Zabetian</name>
<name sortKey="Zabetian, C P" sort="Zabetian, C P" uniqKey="Zabetian C" first="C. P." last="Zabetian">C. P. Zabetian</name>
</country>
</tree>
</affiliations>
</record>

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