Clinical and pathological characteristics of patients with Leucine‐rich repeat kinase‐2 mutations
Identifieur interne : 000B42 ( Main/Exploration ); précédent : 000B41; suivant : 000B43Clinical 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 [ 0885-3185 ] ; 2009-01-15.
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Abstract
Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem 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 LRRK2 mutations. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22096
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-01-15">2009-01-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="32">32</biblScope><biblScope unit="page" to="39">39</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">261B0CC4371557CBFD4F97C60D73707304A4482B</idno><idno type="DOI">10.1002/mds.22096</idno><idno type="ArticleID">MDS22096</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term><term>Leucine‐rich repeat kinase‐2 (LRRK2)</term><term>Parkinson's disease with dementia</term><term>Parkinson's disease/Parkinsonism</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in LRRK2 are the single most common known cause of Parkinson's disease (PD). Two new PD patients with LRRK2 mutation were identified from a cohort with extensive postmortem 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 LRRK2 mutations. © 2008 Movement Disorder Society</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. 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