Movement Disorders (revue)

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Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation

Identifieur interne : 001530 ( PascalFrancis/Curation ); précédent : 001529; suivant : 001531

Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation

Auteurs : Maria Teresa Giordana [Italie] ; Carla D'Agostino [Italie] ; Giovanni Albani [Italie] ; Alessandro Mauro [Italie] ; Alessio Di Fonzo [Pays-Bas, Italie] ; Angelo Antonini [Italie] ; Vincenzo Bonifati [Pays-Bas]

Source :

RBID : Pascal:07-0133261

Descripteurs français

English descriptors

Abstract

Leucine-Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body-positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin-positive inclusions, and tau-positive-only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin- and α-synuclein-positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD.
pA  
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A03   1    @0 Mov. disord.
A05       @2 22
A06       @2 2
A08 01  1  ENG  @1 Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371val mutation
A11 01  1    @1 GIORDANA (Maria Teresa)
A11 02  1    @1 D'AGOSTINO (Carla)
A11 03  1    @1 ALBANI (Giovanni)
A11 04  1    @1 MAURO (Alessandro)
A11 05  1    @1 DI FONZO (Alessio)
A11 06  1    @1 ANTONINI (Angelo)
A11 07  1    @1 BONIFATI (Vincenzo)
A14 01      @1 Department of Neuroscience, University of Torino @2 Torino @3 ITA @Z 1 aut. @Z 2 aut. @Z 4 aut.
A14 02      @1 Department of Neurology, Istituto Auxologico Italiano @2 Piancavallo, Verbania @3 ITA @Z 3 aut. @Z 4 aut.
A14 03      @1 Department of Clinical Genetics, Erasmus MC Rotterdam @2 Rotterdam @3 NLD @Z 5 aut. @Z 7 aut.
A14 04      @1 Department of Neurological Sciences, University of Milan and Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena @2 Milan @3 ITA @Z 5 aut.
A14 05      @1 Parkinson Institute, Istituti Clinici di Perfezionamento @2 Milan @3 ITA @Z 6 aut.
A20       @1 275-278
A21       @1 2007
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A44       @0 0000 @1 © 2007 INIST-CNRS. All rights reserved.
A45       @0 22 ref.
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A60       @1 P @3 CC
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C01 01    ENG  @0 Leucine-Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body-positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin-positive inclusions, and tau-positive-only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin- and α-synuclein-positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD.
C02 01  X    @0 002B17
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C03 01  X  FRE  @0 Système nerveux pathologie @5 01
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C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Parkinson maladie @5 02
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C03 03  X  FRE  @0 Mutation @5 09
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C03 03  X  SPA  @0 Mutación @5 09
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C07 01  X  ENG  @0 Cerebral disorder @5 37
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C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Système nerveux central pathologie @5 40
C07 04  X  ENG  @0 Central nervous system disease @5 40
C07 04  X  SPA  @0 Sistema nervosio central patología @5 40
N21       @1 085
N44 01      @1 OTO
N82       @1 OTO

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Le document en format XML

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<div type="abstract" xml:lang="en">Leucine-Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body-positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin-positive inclusions, and tau-positive-only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin- and α-synuclein-positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD.</div>
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<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21>
<s1>085</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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