Structural imaging in the presymptomatic stage of genetically determined parkinsonism

Abstract Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes fo...

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Bibliographic Details
Published in:Neurobiology of disease 2010-09, Vol.39 (3), p.402-408
Main Authors: Reetz, Kathrin, Tadic, Vera, Kasten, Meike, Brüggemann, Norbert, Schmidt, Alexander, Hagenah, Johann, Pramstaller, Peter P, Ramirez, Alfredo, Behrens, Maria I, Siebner, Hartwig R, Klein, Christine, Binkofski, Ferdinand
Format: Article
Language:English
Subjects:
Adult
ATP13A2
Brain - pathology
Compensation
Genetic parkinsonism
Humans
Image Processing, Computer-Assisted
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
LRRK2
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI)
Middle Aged
Nerve Fibers, Unmyelinated - pathology
Neurology
Parkin
Parkinsonian Disorders - genetics
Parkinsonian Disorders - pathology
Patient Selection
PINK1
Presymptomatic stage
Protein Kinases - genetics
Protein-Serine-Threonine Kinases - genetics
Proton-Translocating ATPases - genetics
Striatum
Ubiquitin-Protein Ligases - genetics
Voxel-based morphometry (VBM)
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Summary:Abstract Several genes associated with monogenic forms of Parkinson's disease (PD) have been discovered, opening up new avenues for the investigation of presymptomatic stages of PD. Using voxel-based morphometry in 30 asymptomatic mutation carriers (MC) with mutations in four different genes for PD and 100 healthy controls, we identified an increase in gray matter volume (GMV) in the striatum in asymptomatic Parkin , PINK1 , ATP13A2 and, to a much lesser extent, in LRRK2 MC. Moreover, an increase in GMV was found in the parieto-temporo-occipital association cortex in asymptomatic Parkin and ATP13A2 MC. The observed striatal GMV increase might be the common structural correlate of compensatory mechanisms due to the latent dopaminergic deficit, reflecting the different, but probably interrelated pathogenic pathways resulting in nigral cell death. Asymptomatic PINK1 and LRRK2 MC also revealed smaller GMV in the hippocampal region, which might play a role in the observed psychiatric disorders.
ISSN:0969-9961
1095-953X
DOI:10.1016/j.nbd.2010.05.006