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Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes University of Antwerp

David Crosiers, Jessie Theuns, Patrick Cras, Christine Van Broeckhoven
In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD) have increased substantially. Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause monogenic forms of PD. Routine clinical testing for mutations in these genes is feasible and available, but overlapping phenotypes in monogenic and sporadic PD complicate straightforward ...

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease Vrije Universiteit Brussel University of Antwerp

Lisa Wang, Jan O Aasly, Grazia Annesi, Soraya Bardien, Maria Bozi, Alexis Brice, Jonathan Carr, Sun J Chung, Carl Clarke, David Crosiers, et al.

OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).

METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and ...

Large-scale replication and heterogeneity in Parkinson disease genetic loci Vrije Universiteit Brussel University of Antwerp

Manu Sharma, John P.A. Ioannidis, Jan O Aasly, Grazia Annesi, Alexis Brice, Christine Van Broeckhoven, Maria Bozi, David Crosiers, Carl Clarke

OBJECTIVE: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown.

METHODS: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium were invited to participate in the study. A total of ...

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease Vrije Universiteit Brussel University of Antwerp

Veerle Bogaerts, Karen Nuytemans, J. Reumers, Philippe Pals, Sebastiaan Engelborghs, Barbara Pickut, Ellen Corsmit, Karin Peeters, J. Schymkowitz, Peter Paul De Deyn, et al.

In one genetic study, the high temperature requirement A2 (HTRA2) mitochondrial protein has been associated with increased risk for sporadic Parkinson disease (PD). One missense mutation, p.Gly399Ser, in its C-terminal PDZ domain (from the initial letters of the postsynaptic density 95, PSD-95; discs large; and zonula occludens-1, ZO-1 proteins [Kennedy, 1995]) resulted in defective protease activation, and induced mitochondrial dysfunction ...

External Cueing Improves Motor Imagery Quality in Patients With Parkinson Disease Hasselt University KU Leuven

Elke HEREMANS, Alice Nieuwboer, Peter FEYS, Sarah Vercruysse, Wim Vandenberghe, Nikhil Sharma, Werner F. Helsen
Background. Patients with Parkinson disease (PD) are often profoundly slow in their performance of physical tasks, as well as in motor imagery (MI). This may limit the implementation and potential benefits of MI practice during rehabilitation. Objective. The authors investigated whether the quality of MI could be improved by external cueing. Methods. Fourteen patients with PD and 14 healthy controls physically executed and visually imagined a ...

Motor Imagery Ability in Patients With Early- and Mid-Stage Parkinson Disease Hasselt University KU Leuven

Elke HEREMANS, Peter FEYS, Alice Nieuwboer, Sarah Vercruysse, Wim Vandenberghe, Nikhil Sharma, Werner Helsen
Background. Motor imagery has recently gained attention as a promising new rehabilitation method for patients with neurological disorders. Up to now, however, it has been unclear whether this practice method can also be successfully applied in the rehabilitation of patients with Parkinson disease (PD). Objective. This study aimed to investigate whether the motor imagery ability of patients with PD is still intact despite basal ganglia ...

Directed graph analysis on theta-gamma phase-amplitude coupling : insights into Parkinson disease EEG data Ghent University

Mohammadjavad Sedghizadeh, Hamid Aghajan, Danilo Babin, Wilfried Philips
Understanding the complex neural interactions in the brain is crucial for advancing diagnostic and therapeutic strategies. Parkinson disease (PD) is a neurodegenerative disorder caused by dopamine deficit which affects the network-level performance across a large area in the brain. This study introduces a novel electroencephalogram (EEG) data analysis approach examining temporal dynamics of theta-gamma cross-frequency phase-amplitude coupling ...