Clinical and brain imaging characteristics in leucine‐rich repeat kinase 2–associated PD and asymptomatic mutation carriers
Identifieur interne : 000366 ( Main/Exploration ); précédent : 000365; suivant : 000367Clinical and brain imaging characteristics in leucine‐rich repeat kinase 2–associated PD and asymptomatic mutation carriers
Auteurs : Kathrin Brockmann [Allemagne] ; Adriane Gröger [Allemagne] ; Adriana Di Santo [Allemagne] ; Inga Liepelt [Allemagne] ; Claudia Schulte [Allemagne] ; Uwe Klose [Allemagne] ; Walter Maetzler [Allemagne] ; Ann-Kathrin Hauser [Allemagne] ; Ruediger Hilker [Allemagne] ; Baltazar Gomez-Mancilla [Suisse] ; Daniela Berg [Allemagne] ; Thomas Gasser [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
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- KwdEn :
Abstract
The objective of this research was to evaluate a possible endophenotype in leucine‐rich repeat kinase 2 (LRRK2)‐associated Parkinson's disease (PD). Ten symptomatic LRRK2 patients, 24 sporadic Parkinson's disease patients as well as 10 asymptomatic LRRK2 mutation carriers and 29 matched healthy controls underwent comprehensive clinical assessments with respect to motor and non‐motor symptoms. Transcranial sonography and magnetic resonance imaging (voxel‐based morphometry [VBM]) were assessed to evaluate morphological imaging characteristics. LRRK2 patients had an earlier onset of motor symptoms and a more benign phenotype of motor and non‐motor characteristics compared to sporadic Parkinson's disease patients. However, depression scores were higher in LRRK2 patients. No clinical differences were found regarding motor and non‐motor symptoms in asymptomatic LRRK2 mutation carriers in comparison to controls. Transcranial sonography showed hyperechogenicity of the substantia nigra in both patients' cohorts as well as in asymptomatic LRRK2 mutation carriers. Voxel‐based morphometry revealed increased gray matter volume of the cerebellum and precentral gyrus in LRRK2 patients and of the cuneus in asymptomatic LRRK2 mutation carriers. In contrast, we found decreased basal ganglia gray matter volume in LRRK2 patients compared to controls. Increased gray matter volume of different anatomical structures associated with motor loops in LRRK2 patients and asymptomatic LRRK2 mutation carriers compared to age‐matched sporadic Parkinson's disease patients and controls might indicate compensatory mechanism in LRRK2 mutation carriers due to motor network plasticity not only in the symptomatic stage of the disease but even in the premotor phase. Substantia nigra hyperechogenicity in yet unaffected LRRK2 mutation carriers indicates morphologic alterations in an asymptomatic stage of disease. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23991
Affiliations:
- Allemagne, Suisse
- Bade-Wurtemberg, District de Cologne, District de Tübingen, Rhénanie-du-Nord-Westphalie
- Bonn, Tübingen
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Ten symptomatic LRRK2 patients, 24 sporadic Parkinson's disease patients as well as 10 asymptomatic LRRK2 mutation carriers and 29 matched healthy controls underwent comprehensive clinical assessments with respect to motor and non‐motor symptoms. Transcranial sonography and magnetic resonance imaging (voxel‐based morphometry [VBM]) were assessed to evaluate morphological imaging characteristics. LRRK2 patients had an earlier onset of motor symptoms and a more benign phenotype of motor and non‐motor characteristics compared to sporadic Parkinson's disease patients. However, depression scores were higher in LRRK2 patients. No clinical differences were found regarding motor and non‐motor symptoms in asymptomatic LRRK2 mutation carriers in comparison to controls. Transcranial sonography showed hyperechogenicity of the substantia nigra in both patients' cohorts as well as in asymptomatic LRRK2 mutation carriers. Voxel‐based morphometry revealed increased gray matter volume of the cerebellum and precentral gyrus in LRRK2 patients and of the cuneus in asymptomatic LRRK2 mutation carriers. In contrast, we found decreased basal ganglia gray matter volume in LRRK2 patients compared to controls. Increased gray matter volume of different anatomical structures associated with motor loops in LRRK2 patients and asymptomatic LRRK2 mutation carriers compared to age‐matched sporadic Parkinson's disease patients and controls might indicate compensatory mechanism in LRRK2 mutation carriers due to motor network plasticity not only in the symptomatic stage of the disease but even in the premotor phase. Substantia nigra hyperechogenicity in yet unaffected LRRK2 mutation carriers indicates morphologic alterations in an asymptomatic stage of disease. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Suisse</li></country><region><li>Bade-Wurtemberg</li><li>District de Cologne</li><li>District de Tübingen</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Bonn</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name></region><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><name sortKey="Brockmann, Kathrin" sort="Brockmann, Kathrin" uniqKey="Brockmann K" first="Kathrin" last="Brockmann">Kathrin Brockmann</name><name sortKey="Di Santo, Adriana" sort="Di Santo, Adriana" uniqKey="Di Santo A" first="Adriana" last="Di Santo">Adriana Di Santo</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Groger, Adriane" sort="Groger, Adriane" uniqKey="Groger A" first="Adriane" last="Gröger">Adriane Gröger</name><name sortKey="Hauser, Ann Athrin" sort="Hauser, Ann Athrin" uniqKey="Hauser A" first="Ann-Kathrin" last="Hauser">Ann-Kathrin Hauser</name><name sortKey="Hilker, Ruediger" sort="Hilker, Ruediger" uniqKey="Hilker R" first="Ruediger" last="Hilker">Ruediger Hilker</name><name sortKey="Klose, Uwe" sort="Klose, Uwe" uniqKey="Klose U" first="Uwe" last="Klose">Uwe Klose</name><name sortKey="Liepelt, Inga" sort="Liepelt, Inga" uniqKey="Liepelt I" first="Inga" last="Liepelt">Inga Liepelt</name><name sortKey="Liepelt, Inga" sort="Liepelt, Inga" uniqKey="Liepelt I" first="Inga" last="Liepelt">Inga Liepelt</name><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name></country><country name="Suisse"><noRegion><name sortKey="Gomez Ancilla, Baltazar" sort="Gomez Ancilla, Baltazar" uniqKey="Gomez Ancilla B" first="Baltazar" last="Gomez-Mancilla">Baltazar Gomez-Mancilla</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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