ParkinsonCanadaV1, PascalFrancis, Curation, bibRecord, 000323

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Identifieur interne : 000323 ( PascalFrancis/Curation ); précédent : 000322; suivant : 000324

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Auteurs : Z. K. Wszolek [États-Unis] ; R. F. Pfeiffer [États-Unis] ; Y. Tsuboi [États-Unis] ; R. J. Uitti [États-Unis] ; R. D. Mccomb [États-Unis] ; A. J. Stoessl [Canada] ; A. J. Strongosky [États-Unis] ; A. Zimprich [Allemagne] ; B. Müller-Myhsok [Allemagne] ; M. J. Farrer [États-Unis] ; T. Gasser [Allemagne] ; D. B. Calne [Canada] ; D. W. Dickson [États-Unis]

Source :

Neurology [ 0028-3878 ] ; 2004.

RBID : Pascal:04-0283952

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Anatomopathologie, Système nerveux pathologie.

English descriptors

KwdEn :
- Anatomic pathology, Nervous system diseases, Parkinsonism.

Abstract

Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.

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A08	`01`	`1`	`ENG`	`@1 Autosomal dominant parkinsonism associated with variable synuclein and tau pathology`
A11	`01`	`1`		`@1 WSZOLEK (Z. K.)`
A11	`02`	`1`		`@1 PFEIFFER (R. F.)`
A11	`03`	`1`		`@1 TSUBOI (Y.)`
A11	`04`	`1`		`@1 UITTI (R. J.)`
A11	`05`	`1`		`@1 MCCOMB (R. D.)`
A11	`06`	`1`		`@1 STOESSL (A. J.)`
A11	`07`	`1`		`@1 STRONGOSKY (A. J.)`
A11	`08`	`1`		`@1 ZIMPRICH (A.)`
A11	`09`	`1`		`@1 MÜLLER-MYHSOK (B.)`
A11	`10`	`1`		`@1 FARRER (M. J.)`
A11	`11`	`1`		`@1 GASSER (T.)`
A11	`12`	`1`		`@1 CALNE (D. B.)`
A11	`13`	`1`		`@1 DICKSON (D. W.)`
A14	`01`			`@1 Department of Neurology, Mayo Clinic @2 Jacksonville, FL @3 USA @Z 1 aut. @Z 3 aut. @Z 4 aut. @Z 7 aut.`
A14	`02`			`@1 Department of Neurology, University of Tennessee Health Science Center @2 Memphis, TN @3 USA @Z 2 aut.`
A14	`03`			`@1 Department of Pathology and Microbiology, University of Nebraska Medical Center @2 Omaha, NE @3 USA @Z 5 aut.`
A14	`04`			`@1 Department of Neurology, University of British Columbia @2 Vancouver, British Columbia @3 CAN @Z 6 aut.`
A14	`05`			`@1 Department of Neurology, Klinikum Grosshadern, LudwigMaximilians-Universitie @2 Munich @3 DEU @Z 8 aut. @Z 11 aut.`
A14	`06`			`@1 Computational Genetics Group, Max-Planck-Institute of Psychiatry @2 Munich @3 DEU @Z 9 aut.`
A14	`07`			`@1 Department of Neuroscience, Mayo Clinic @2 Jacksonville, FL @3 USA @Z 10 aut. @Z 13 aut.`
A14	`08`			`@1 Pacific Parkinson's Research Centre, University Hospital @2 Vancouver, British Columbia @3 CAN @Z 12 aut.`
A20				`@1 1619-1622`
A21				`@1 2004`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 6345 @5 354000111945610320`
A44				`@0 0000 @1 © 2004 INIST-CNRS. All rights reserved.`
A45				`@0 9 ref.`
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C01	`01`		`ENG`	@0 Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.
C02	`01`	`X`		`@0 002B17`
C03	`01`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Anatomopathologie @5 02`
C03	`02`	`X`	`ENG`	`@0 Anatomic pathology @5 02`
C03	`02`	`X`	`SPA`	`@0 Anatomía patológica @5 02`
C03	`03`	`X`	`FRE`	`@0 Système nerveux pathologie @5 04`
C03	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
N21				`@1 173`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Le document en format XML

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<author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D. B." last="Calne">D. B. Calne</name>
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<s2>Memphis, TN</s2>
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<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
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<sZ>4 aut.</sZ>
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<country>États-Unis</country>
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<author><name sortKey="Uitti, R J" sort="Uitti, R J" uniqKey="Uitti R" first="R. J." last="Uitti">R. J. Uitti</name>
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<s2>Jacksonville, FL</s2>
<s3>USA</s3>
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<author><name sortKey="Mccomb, R D" sort="Mccomb, R D" uniqKey="Mccomb R" first="R. D." last="Mccomb">R. D. Mccomb</name>
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<author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name>
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<s2>Vancouver, British Columbia</s2>
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<author><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name>
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<s2>Jacksonville, FL</s2>
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<author><name sortKey="Zimprich, A" sort="Zimprich, A" uniqKey="Zimprich A" first="A." last="Zimprich">A. Zimprich</name>
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<s2>Munich</s2>
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<author><name sortKey="Muller Myhsok, B" sort="Muller Myhsok, B" uniqKey="Muller Myhsok B" first="B." last="Müller-Myhsok">B. Müller-Myhsok</name>
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<s2>Munich</s2>
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<country>Allemagne</country>
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<author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
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<author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. Gasser</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Klinikum Grosshadern, LudwigMaximilians-Universitie</s1>
<s2>Munich</s2>
<s3>DEU</s3>
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<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D. B." last="Calne">D. B. Calne</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Pacific Parkinson's Research Centre, University Hospital</s1>
<s2>Vancouver, British Columbia</s2>
<s3>CAN</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Canada</country>
</affiliation>
</author>
<author><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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<series><title level="j" type="main">Neurology</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anatomic pathology</term>
<term>Nervous system diseases</term>
<term>Parkinsonism</term>
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<front><div type="abstract" xml:lang="en">Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.</div>
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<fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Neurology, University of Tennessee Health Science Center</s1>
<s2>Memphis, TN</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Pathology and Microbiology, University of Nebraska Medical Center</s1>
<s2>Omaha, NE</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, University of British Columbia</s1>
<s2>Vancouver, British Columbia</s2>
<s3>CAN</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, Klinikum Grosshadern, LudwigMaximilians-Universitie</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Computational Genetics Group, Max-Planck-Institute of Psychiatry</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Pacific Parkinson's Research Centre, University Hospital</s1>
<s2>Vancouver, British Columbia</s2>
<s3>CAN</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA20><s1>1619-1622</s1>
</fA20>
<fA21><s1>2004</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>6345</s2>
<s5>354000111945610320</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2004 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>9 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>04-0283952</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Neurology</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</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>Anatomopathologie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Anatomic pathology</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Anatomía patológica</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>04</s5>
</fC03>
<fN21><s1>173</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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   |texte=   Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
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	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

La maladie de Parkinson au Canada (serveur d'exploration)

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

Autosomal dominant parkinsonism associated with variable synuclein and tau pathology

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