Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study.
OBJECTIVE
To evaluate possible changes in the gray matter volume of patients with Unverricht-Lundborg disease (EPM1) compared with healthy controls.


METHODS
Thirty-four genetically verified patients with EPM1 and 30 healthy controls matched for age and sex underwent MRI (T1-, T2-, fluid-attenuated inversion recovery-, and T1-weighted 3-dimensional images). T1-weighted 3-dimensional images were analyzed with voxel-based morphometry (VBM) to compare the regional differences in gray matter volumes between patients and controls. The patients with EPM1 were also clinically evaluated for myoclonus severity using the Unified Myoclonus Rating Scale.


RESULTS
VBM analysis revealed atrophy in the bilateral primary, premotor, and supplementary motor cortex. The thalamus and precuneus were also bilaterally affected. No infratentorial changes were detected in the group analysis.


CONCLUSIONS
The cortical motor areas of the brain are particularly affected in EPM1, correlating with the motor symptoms of this disease. The combination of detailed imaging with neurophysiologic evaluation may help to reveal the pathogenesis of Unverricht-Lundborg disease.
Koskenkorva
P
P
Department of Clinical Radiology, Kuopio University Hospital, Puijonlaaksontie 2, FIN-70210 Kuopio, Finland. paivi.koskenkorva@kuh.fi
Khyuppenen
J
J
Niskanen
E
E
Könönen
M
M
Bendel
P
P
Mervaala
E
E
Lehesjoki
A E
AE
Kälviäinen
R
R
Vanninen
R
R
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000473:pathology*; D013788:Thalamus / Q000473:pathology*; D020194:Unverricht-Lundborg Syndrome / Q000235:genetics / Q000473:pathology*; D055815:Young Adult