Clinical and brain imaging characteristics in leucine‐rich repeat kinase 2–associated PD and asymptomatic mutation carriers
Identifieur interne : 000464 ( Istex/Corpus ); précédent : 000463; suivant : 000465Clinical and brain imaging characteristics in leucine‐rich repeat kinase 2–associated PD and asymptomatic mutation carriers
Auteurs : Kathrin Brockmann ; Adriane Gröger ; Adriana Di Santo ; Inga Liepelt ; Claudia Schulte ; Uwe Klose ; Walter Maetzler ; Ann-Kathrin Hauser ; Ruediger Hilker ; Baltazar Gomez-Mancilla ; Daniela Berg ; Thomas GasserSource :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
English descriptors
- 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
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DOI: 10.1002/mds.23991
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<front><div type="abstract" xml:lang="en">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</div>
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<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</abstract>
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<notesStmt><note type="content">*Funding agencies: This study was supported by Novartis Pharma AG.</note>
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<note type="correspondence"><p>Correspondence: Department of Neurodegeneration, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Hoppe‐Seyler‐Str. 3, D ‐ 72076 Tübingen, Germany</p>
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<affiliation>Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation>
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<p>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 <i>LRRK2</i>
patients, 24 sporadic Parkinson's disease patients as well as 10 asymptomatic <i>LRRK2</i>
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. <i>LRRK2</i>
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 <i>LRRK2</i>
patients. No clinical differences were found regarding motor and non‐motor symptoms in asymptomatic <i>LRRK2</i>
mutation carriers in comparison to controls. Transcranial sonography showed hyperechogenicity of the substantia nigra in both patients' cohorts as well as in asymptomatic <i>LRRK2</i>
mutation carriers. Voxel‐based morphometry revealed increased gray matter volume of the cerebellum and precentral gyrus in <i>LRRK2</i>
patients and of the cuneus in asymptomatic <i>LRRK2</i>
mutation carriers. In contrast, we found decreased basal ganglia gray matter volume in <i>LRRK2</i>
patients compared to controls. Increased gray matter volume of different anatomical structures associated with motor loops in <i>LRRK2</i>
patients and asymptomatic <i>LRRK2</i>
mutation carriers compared to age‐matched sporadic Parkinson's disease patients and controls might indicate compensatory mechanism in <i>LRRK2</i>
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 <i>LRRK2</i>
mutation carriers indicates morphologic alterations in an asymptomatic stage of disease. © 2011 Movement Disorder Society</p>
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<abstract lang="en">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</abstract>
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