Metabolic characterization of spinocerebellar ataxia type 6.
BACKGROUND
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder characterized by slowly progressive ataxia and dysarthria. The mutational basis is an expanded CAG repeat sequence within the coding regions of the CACNL1A4 gene. Basic clinical, neuroimaging, and pathological, and epidemiological features have been described in the literature. However, the metabolic features of SCA6 have not been elucidated.


OBJECTIVE
To investigate the metabolic features of SCA6.


METHODS
Seven patients with SCA6 and 7 healthy individuals underwent positron emission tomography using fluorodeoxyglucose F 18.


RESULTS
Cerebral glucose utilization in the 7 patients with SCA6 was characterized by significant hypometabolism in widespread structures, including cortical regions and basal ganglia, as well as the cerebellar hemispheres and brainstem.


CONCLUSIONS
The results of the multiple-regional brain hypometabolism suggest that brain dysfunction associated with SCA6 may not be limited to the cerebellum and inferior olive, as previously suggested by the results of other pathologic studies.
Soong
B
B
Neurological Institute, Veterans General Hospital-Taipei, Taipei, Taiwan 112, Republic of China. bwsoong@vghtpe.gov.tw
Liu
R
R
Wu
L
L
Lu
Y
Y
Lee
H
H
D000328:Adult; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000378:metabolism*; D005260:Female; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019275:Radiopharmaceuticals; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000378:metabolism*; D018709:Statistics, Nonparametric; D013687:Telencephalon / Q000000981:diagnostic imaging / Q000378:metabolism*; D014055:Tomography, Emission-Computed
D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; D005947:Glucose