A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity
Identifieur interne : 000993 ( PascalFrancis/Corpus ); précédent : 000992; suivant : 000994A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity
Auteurs : Parvoneh Poorkaj ; Wendy H. Raskind ; James B. Leverenz ; Mark Matsushita ; Cyrus P. Zabetian ; Ali Samii ; Sophia Kim ; Nayiry Gazi ; John G. Nutt ; John Wolff ; Dora Yearout ; J. Lynne Greenup ; Ellen J. Steinbart ; Thomas D. BirdSource :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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 multigenerational 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 four-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 ∼20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease ir 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 four-repeat tau pathology, and defined a novel candidate gene locus spanning ∼28 Mb from Xp11.2-Xq13.3.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
| NO : | PASCAL 10-0377345 INIST |
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| ET : | A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity |
| AU : | POORKAJ (Parvoneh); RASKIND (Wendy H.); LEVERENZ (James B.); MATSUSHITA (Mark); ZABETIAN (Cyrus P.); SAMII (Ali); KIM (Sophia); GAZI (Nayiry); NUTT (John G.); WOLFF (John); YEAROUT (Dora); GREENUP (J. Lynne); STEINBART (Ellen J.); BIRD (Thomas D.) |
| AF : | Department of Psychiatry and Behavioral Sciences, University of Washington/Seattle, Washington/Etats-Unis (1 aut., 2 aut., 3 aut., 7 aut., 8 aut., 12 aut.); Department of Medicine, University of Washington/Seattle, Washington/Etats-Unis (1 aut., 2 aut., 4 aut., 10 aut., 14 aut.); VISN 20 Mental Illness Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (2 aut., 3 aut.); Department of Neurology, University of Washington/Seattle, Washington/Etats-Unis (3 aut., 5 aut., 6 aut., 11 aut., 13 aut., 14 aut.); Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (3 aut., 5 aut., 6 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (9 aut.); Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (5 aut., 11 aut., 14 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 10; Pp. 1409-1417; Bibl. 35 ref. |
| LA : | Anglais |
| EA : | 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 multigenerational 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 four-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 ∼20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease ir 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 four-repeat tau pathology, and defined a novel candidate gene locus spanning ∼28 Mb from Xp11.2-Xq13.3. |
| CC : | 002B17; 002B17G |
| FD : | Parkinsonisme; Hypertonie spastique; Maladie de Parkinson; Paraparésie; Pathologie du système nerveux; Liaison génétique |
| FG : | Pathologie du muscle strié; Trouble neurologique; Trouble du tonus; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central; Trouble moteur; Parésie |
| ED : | Parkinsonism; Spasticity; Parkinson disease; Paraparesia; Nervous system diseases; Genetic linkage |
| EG : | Striated muscle disease; Neurological disorder; Muscle tonus alteration; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Motor system disorder; Paresis |
| SD : | Parkinson síndrome; Hipertonia espástica; Parkinson enfermedad; Paraparesia; Sistema nervioso patología; Ligamiento genético |
| LO : | INIST-20953.354000194762830110 |
| ID : | 10-0377345 |
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Bird</name><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0377345</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0377345 INIST</idno><idno type="RBID">Pascal:10-0377345</idno><idno type="wicri:Area/PascalFrancis/Corpus">000993</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity</title><author><name sortKey="Poorkaj, Parvoneh" sort="Poorkaj, Parvoneh" uniqKey="Poorkaj P" first="Parvoneh" last="Poorkaj">Parvoneh Poorkaj</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Raskind, Wendy H" sort="Raskind, Wendy H" uniqKey="Raskind W" first="Wendy H." last="Raskind">Wendy H. Raskind</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="03"><s1>VISN 20 Mental Illness Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B." last="Leverenz">James B. Leverenz</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="03"><s1>VISN 20 Mental Illness Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="05"><s1>Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Matsushita, Mark" sort="Matsushita, Mark" uniqKey="Matsushita M" first="Mark" last="Matsushita">Mark Matsushita</name><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="05"><s1>Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="05"><s1>Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Kim, Sophia" sort="Kim, Sophia" uniqKey="Kim S" first="Sophia" last="Kim">Sophia Kim</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Gazi, Nayiry" sort="Gazi, Nayiry" uniqKey="Gazi N" first="Nayiry" last="Gazi">Nayiry Gazi</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G." last="Nutt">John G. Nutt</name><affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Oregon Health Sciences University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>9 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Wolff, John" sort="Wolff, John" uniqKey="Wolff J" first="John" last="Wolff">John Wolff</name><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Greenup, J Lynne" sort="Greenup, J Lynne" uniqKey="Greenup J" first="J. Lynne" last="Greenup">J. Lynne Greenup</name><affiliation><inist:fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Steinbart, Ellen J" sort="Steinbart, Ellen J" uniqKey="Steinbart E" first="Ellen J." last="Steinbart">Ellen J. Steinbart</name><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name><affiliation><inist:fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation><affiliation><inist:fA14 i1="07"><s1>Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ></inist:fA14></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic linkage</term><term>Nervous system diseases</term><term>Paraparesia</term><term>Parkinson disease</term><term>Parkinsonism</term><term>Spasticity</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Hypertonie spastique</term><term>Maladie de Parkinson</term><term>Paraparésie</term><term>Pathologie du système nerveux</term><term>Liaison génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 multigenerational 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 four-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 ∼20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease ir 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 four-repeat tau pathology, and defined a novel candidate gene locus spanning ∼28 Mb from Xp11.2-Xq13.3.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity</s1></fA08><fA11 i1="01" i2="1"><s1>POORKAJ (Parvoneh)</s1></fA11><fA11 i1="02" i2="1"><s1>RASKIND (Wendy H.)</s1></fA11><fA11 i1="03" i2="1"><s1>LEVERENZ (James B.)</s1></fA11><fA11 i1="04" i2="1"><s1>MATSUSHITA (Mark)</s1></fA11><fA11 i1="05" i2="1"><s1>ZABETIAN (Cyrus P.)</s1></fA11><fA11 i1="06" i2="1"><s1>SAMII (Ali)</s1></fA11><fA11 i1="07" i2="1"><s1>KIM (Sophia)</s1></fA11><fA11 i1="08" i2="1"><s1>GAZI (Nayiry)</s1></fA11><fA11 i1="09" i2="1"><s1>NUTT (John G.)</s1></fA11><fA11 i1="10" i2="1"><s1>WOLFF (John)</s1></fA11><fA11 i1="11" i2="1"><s1>YEAROUT (Dora)</s1></fA11><fA11 i1="12" i2="1"><s1>GREENUP (J. Lynne)</s1></fA11><fA11 i1="13" i2="1"><s1>STEINBART (Ellen J.)</s1></fA11><fA11 i1="14" i2="1"><s1>BIRD (Thomas D.)</s1></fA11><fA14 i1="01"><s1>Department of Psychiatry and Behavioral Sciences, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Medicine, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>10 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="03"><s1>VISN 20 Mental Illness Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, University of Washington</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>11 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></fA14><fA14 i1="05"><s1>Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Oregon Health Sciences University</s1><s2>Portland, Oregon</s2><s3>USA</s3><sZ>9 aut.</sZ></fA14><fA14 i1="07"><s1>Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System</s1><s2>Seattle, Washington</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>11 aut.</sZ><sZ>14 aut.</sZ></fA14><fA20><s1>1409-1417</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000194762830110</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>35 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0377345</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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 multigenerational 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 four-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 ∼20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease ir 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 four-repeat tau pathology, and defined a novel candidate gene locus spanning ∼28 Mb from Xp11.2-Xq13.3.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Hypertonie spastique</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Spasticity</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Hipertonia espástica</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Paraparésie</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Paraparesia</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Paraparesia</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Liaison génétique</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Genetic linkage</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Ligamiento genético</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>38</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>38</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Trouble du tonus</s0><s5>40</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Muscle tonus alteration</s0><s5>40</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Trastorno tono muscular</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Trouble moteur</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Motor system disorder</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Trastorno motor</s0><s5>45</s5></fC07><fC07 i1="09" i2="X" l="FRE"><s0>Parésie</s0><s5>46</s5></fC07><fC07 i1="09" i2="X" l="ENG"><s0>Paresis</s0><s5>46</s5></fC07><fC07 i1="09" i2="X" l="SPA"><s0>Paresia</s0><s5>46</s5></fC07><fN21><s1>242</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 10-0377345 INIST</NO><ET>A Novel X-Linked Four-Repeat Tauopathy with Parkinsonism and Spasticity</ET><AU>POORKAJ (Parvoneh); RASKIND (Wendy H.); LEVERENZ (James B.); MATSUSHITA (Mark); ZABETIAN (Cyrus P.); SAMII (Ali); KIM (Sophia); GAZI (Nayiry); NUTT (John G.); WOLFF (John); YEAROUT (Dora); GREENUP (J. Lynne); STEINBART (Ellen J.); BIRD (Thomas D.)</AU><AF>Department of Psychiatry and Behavioral Sciences, University of Washington/Seattle, Washington/Etats-Unis (1 aut., 2 aut., 3 aut., 7 aut., 8 aut., 12 aut.); Department of Medicine, University of Washington/Seattle, Washington/Etats-Unis (1 aut., 2 aut., 4 aut., 10 aut., 14 aut.); VISN 20 Mental Illness Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (2 aut., 3 aut.); Department of Neurology, University of Washington/Seattle, Washington/Etats-Unis (3 aut., 5 aut., 6 aut., 11 aut., 13 aut., 14 aut.); Parkinson's Disease Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (3 aut., 5 aut., 6 aut.); Department of Neurology, Oregon Health Sciences University/Portland, Oregon/Etats-Unis (9 aut.); Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System/Seattle, Washington/Etats-Unis (5 aut., 11 aut., 14 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 10; Pp. 1409-1417; Bibl. 35 ref.</SO><LA>Anglais</LA><EA>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 multigenerational 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 four-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 ∼20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease ir 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 four-repeat tau pathology, and defined a novel candidate gene locus spanning ∼28 Mb from Xp11.2-Xq13.3.</EA><CC>002B17; 002B17G</CC><FD>Parkinsonisme; Hypertonie spastique; Maladie de Parkinson; Paraparésie; Pathologie du système nerveux; Liaison génétique</FD><FG>Pathologie du muscle strié; Trouble neurologique; Trouble du tonus; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central; Trouble moteur; Parésie</FG><ED>Parkinsonism; Spasticity; Parkinson disease; Paraparesia; Nervous system diseases; Genetic linkage</ED><EG>Striated muscle disease; Neurological disorder; Muscle tonus alteration; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Motor system disorder; Paresis</EG><SD>Parkinson síndrome; Hipertonia espástica; Parkinson enfermedad; Paraparesia; Sistema nervioso patología; Ligamiento genético</SD><LO>INIST-20953.354000194762830110</LO><ID>10-0377345</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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