Clinical and Pathological Characteristics of Patients with Leucine-Rich Repeat Kinase-2 Mutations
Identifieur interne : 002428 ( Ncbi/Checkpoint ); précédent : 002427; suivant : 002429Clinical and Pathological Characteristics of Patients with Leucine-Rich Repeat Kinase-2 Mutations
Auteurs : Jason P. Covy [États-Unis] ; Wuxing Yuan [États-Unis] ; Elisa A. Waxman [États-Unis] ; Howard I. Hurtig [États-Unis] ; Vivianna M. Van Deerlin [États-Unis] ; Benoit I. Giasson [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2009.
English descriptors
- KwdEn :
- Aged, Amino Acid Sequence, Cohort Studies, DNA Mutational Analysis, Female, Genes, Dominant, Hippocampus (pathology), Humans, Inclusion Bodies (chemistry), Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Neurofibrillary Tangles, Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson Disease (psychology), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonian Disorders (psychology), Phosphorylation, Phosphoserine (analysis), Point Mutation, Protein Processing, Post-Translational, Protein-Serine-Threonine Kinases (chemistry), Protein-Serine-Threonine Kinases (genetics), Protein-Serine-Threonine Kinases (physiology), Sequence Alignment, Sequence Homology, Amino Acid, Temporal Lobe (pathology), alpha-Synuclein (analysis).
- MESH :
- chemical , analysis : Phosphoserine, alpha-Synuclein.
- chemistry : Inclusion Bodies, Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease, Parkinsonian Disorders, Protein-Serine-Threonine Kinases.
- pathology : Hippocampus, Parkinson Disease, Parkinsonian Disorders, Temporal Lobe.
- chemical , physiology : Protein-Serine-Threonine Kinases.
- psychology : Parkinson Disease, Parkinsonian Disorders.
- Aged, Amino Acid Sequence, Cohort Studies, DNA Mutational Analysis, Female, Genes, Dominant, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Neurofibrillary Tangles, Phosphorylation, Point Mutation, Protein Processing, Post-Translational, Sequence Alignment, Sequence Homology, Amino Acid.
Abstract
Mutations in
Url:
DOI: 10.1002/mds.22096
PubMed: 19006185
PubMed Central: 2634827
Affiliations:
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PMC:2634827Le document en format XML
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Covy</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pharmacology, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pharmacology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A." last="Waxman">Elisa A. 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Covy</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pharmacology, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pharmacology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A." last="Waxman">Elisa A. Waxman</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pharmacology, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pharmacology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. Hurtig</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Neurology, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Neurology, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I" last="Giasson">Benoit I. Giasson</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pharmacology, University of Pennsylvania, Philadelphia, PA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pharmacology, University of Pennsylvania, Philadelphia</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="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Amino Acid Sequence</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genes, Dominant</term><term>Hippocampus (pathology)</term><term>Humans</term><term>Inclusion Bodies (chemistry)</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Neurofibrillary Tangles</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson Disease (psychology)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (pathology)</term><term>Parkinsonian Disorders (psychology)</term><term>Phosphorylation</term><term>Phosphoserine (analysis)</term><term>Point Mutation</term><term>Protein Processing, Post-Translational</term><term>Protein-Serine-Threonine Kinases (chemistry)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (physiology)</term><term>Sequence Alignment</term><term>Sequence Homology, Amino Acid</term><term>Temporal Lobe (pathology)</term><term>alpha-Synuclein (analysis)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Phosphoserine</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Inclusion Bodies</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Hippocampus</term><term>Parkinson Disease</term><term>Parkinsonian Disorders</term><term>Temporal Lobe</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Amino Acid Sequence</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genes, Dominant</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Neurofibrillary Tangles</term><term>Phosphorylation</term><term>Point Mutation</term><term>Protein Processing, Post-Translational</term><term>Sequence Alignment</term><term>Sequence Homology, Amino Acid</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Mutations in <italic>LRRK2</italic> are the single most common known cause of Parkinson's disease (PD). Two new PD patients with <italic>LRRK2</italic> mutation were identified from a cohort with extensive post-mortem assessment. One of these patients harbors the R793M mutation and presented with the typical clinical and pathological features of PD. A novel L1165P mutation was identified in a second patient. This patient had the classical and pathological features of PD, but additionally developed severe neuropsychological symptoms and dementia associated with abundant neurofibrillary tangles in the hippocampal formation; features consistent with a secondary diagnosis of tangle-predominant dementia. α-Synuclein-containing pathological inclusions in these patients also were highly phosphorylated at Ser-129, similar to other patients with idiopathic PD. These two PD patients also were characterized by the presence of occasional cytoplasmic TDP-43 inclusions in the temporal cortex, a finding that was not observed in three other patients with the G2019S mutation in LRRK2. These findings extend the clinical and pathological features that may be associated with <italic>LRRK2</italic> mutations.</p></div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Covy, Jason P" sort="Covy, Jason P" uniqKey="Covy J" first="Jason P." last="Covy">Jason P. Covy</name></region><name sortKey="Giasson, Benoit I" sort="Giasson, Benoit I" uniqKey="Giasson B" first="Benoit I" last="Giasson">Benoit I. Giasson</name><name sortKey="Hurtig, Howard I" sort="Hurtig, Howard I" uniqKey="Hurtig H" first="Howard I." last="Hurtig">Howard I. Hurtig</name><name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna M." last="Van Deerlin">Vivianna M. Van Deerlin</name><name sortKey="Waxman, Elisa A" sort="Waxman, Elisa A" uniqKey="Waxman E" first="Elisa A." last="Waxman">Elisa A. Waxman</name><name sortKey="Yuan, Wuxing" sort="Yuan, Wuxing" uniqKey="Yuan W" first="Wuxing" last="Yuan">Wuxing Yuan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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