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Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers.
Mov Disord. 2011 Nov; 26(13):2335-42.MD

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.

Authors+Show Affiliations

Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Kathrin.Brockmann@uni-tuebingen.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21989859

Citation

Brockmann, Kathrin, et al. "Clinical and Brain Imaging Characteristics in Leucine-rich Repeat Kinase 2-associated PD and Asymptomatic Mutation Carriers." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 26, no. 13, 2011, pp. 2335-42.
Brockmann K, Gröger A, Di Santo A, et al. Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. Mov Disord. 2011;26(13):2335-42.
Brockmann, K., Gröger, A., Di Santo, A., Liepelt, I., Schulte, C., Klose, U., Maetzler, W., Hauser, A. K., Hilker, R., Gomez-Mancilla, B., Berg, D., & Gasser, T. (2011). Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. Movement Disorders : Official Journal of the Movement Disorder Society, 26(13), 2335-42. https://doi.org/10.1002/mds.23991
Brockmann K, et al. Clinical and Brain Imaging Characteristics in Leucine-rich Repeat Kinase 2-associated PD and Asymptomatic Mutation Carriers. Mov Disord. 2011;26(13):2335-42. PubMed PMID: 21989859.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. AU - Brockmann,Kathrin, AU - Gröger,Adriane, AU - Di Santo,Adriana, AU - Liepelt,Inga, AU - Schulte,Claudia, AU - Klose,Uwe, AU - Maetzler,Walter, AU - Hauser,Ann-Kathrin, AU - Hilker,Ruediger, AU - Gomez-Mancilla,Baltazar, AU - Berg,Daniela, AU - Gasser,Thomas, Y1 - 2011/10/11/ PY - 2010/12/30/received PY - 2011/08/13/revised PY - 2011/08/29/accepted PY - 2011/10/13/entrez PY - 2011/10/13/pubmed PY - 2012/4/6/medline SP - 2335 EP - 42 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 26 IS - 13 N2 - 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. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/21989859/Clinical_and_brain_imaging_characteristics_in_leucine_rich_repeat_kinase_2_associated_PD_and_asymptomatic_mutation_carriers_ L2 - https://doi.org/10.1002/mds.23991 DB - PRIME DP - Unbound Medicine ER -