Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.
BACKGROUND
Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic postures or movements of the upper body. Functional imaging studies in other, mainly heterogeneous groups of dystonia do agree on dysfunction of the striato-pallido-thalamo-cortical circuit.


OBJECTIVE
To study cerebral activation patterns with functional magnetic resonance imaging in a genetically defined homogeneous group of patients with dystonia.


METHODS
Thirteen clinically affected SGCE mutation carriers and 11 control subjects were studied in a case-control study. Intervention A finger-tapping motor task was performed in a block design using 3.0-T magnetic resonance imaging.


METHODS
Blood oxygenation level-dependent signals were compared between groups.


RESULTS
In SGCE mutation carriers, we observed significant hyperresponsiveness in contralateral inferior parietal cortical areas, ipsilateral premotor and primary somatosensory cortex, and ipsilateral cerebellum during the motor task compared with healthy control subjects.


CONCLUSIONS
The cortical activation patterns in SGCE mutation carriers during this motor task point to a disorganized sensorimotor integration in this uniform group of patients with dystonia and are consistent with functional neuroimaging studies in other types of (hereditary) dystonia.
Beukers
Richard J
RJ
Department of Neurology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.
Foncke
Elisabeth M J
EM
van der Meer
Johan N
JN
Nederveen
Aart J
AJ
de Ruiter
Michiel B
MB
Bour
Lo J
LJ
Veltman
Dick J
DJ
Tijssen
Marina A J
MA
D000328:Adult; D000368:Aged; D001921:Brain / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology*; D001931:Brain Mapping; D016022:Case-Control Studies; D002531:Cerebellum / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D002560:Cerebrovascular Circulation / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009415:Nerve Net / Q000378:metabolism / Q000503:physiopathology*; D010296:Parietal Lobe / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D049031:Sarcoglycans / Q000235:genetics; D013003:Somatosensory Cortex / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D013647:Task Performance and Analysis; D055815:Young Adult
C526572:SGCE protein, human; D049031:Sarcoglycans