Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates.
We assessed the structural and functional imaging features of cerebellar lesions and their neurobehavioral correlates in a large cohort of patients with tuberous sclerosis complex. A consecutive series of 78 patients with tuberous sclerosis complex underwent magnetic resonance imaging (MRI) and positron emission tomography (PET) studies with [(18)F]fluorodeoxyglucose (FDG) and alpha-[(11)C]methyl-l-tryptophan (AMT) as part of their evaluation for epilepsy surgery. Neurobehavioral assessment included the Gilliam Autism Rating Scales (GARS) and the Vineland Adaptive Behavior Scales (VABS). Twenty-one patients (27%) had cerebellar lesions (10 boys; mean age 9 +/- 8 years; 9 had right-sided, 10 had left-sided, and 2 had bilateral cerebellar lesions). The lesions showed decreased glucose metabolism (0.79 +/- 0.10) and increased (1.04 +/- 0.10) AMT uptake compared with the normal (nonlesional) cerebellar cortex. Comparisons between patients with (n = 20) and without (n = 57) a cerebellar lesion on neurobehavioral functioning, controlling for the number and location of cortical tubers, revealed that the cerebellar lesion group had higher overall autistic symptomatology. Within-group analyses of the cerebellar lesion group revealed that children with right-sided cerebellar lesions had higher social isolation and communicative and developmental disturbance compared with children with left-sided cerebellar lesions. The side of the cerebellar lesion was not related to adaptive behavior functioning. These findings provide additional empiric support for a role of the cerebellum in autistic symptomatology. Further investigation of the potential role of the right cerebellum in autism, particularly with regard to the dentatothalamofrontal circuit, is warranted.
Eluvathingal
Thomas J
TJ
Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI 48201, USA.
Behen
Michael E
ME
Chugani
Harry T
HT
Janisse
James
J
Bernardi
Bruno
B
Chakraborty
Pulak
P
Juhasz
Csaba
C
Muzik
Otto
O
Chugani
Diane C
DC
D000293:Adolescent; D001931:Brain Mapping; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D019788:Fluorodeoxyglucose F18 / Q000493:pharmacokinetics; D007839:Functional Laterality; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008606:Mental Processes / Q000502:physiology*; D009483:Neuropsychological Tests; D049268:Positron-Emission Tomography / Q000379:methods; D014230:Triazoles / Q000493:pharmacokinetics; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*
C488155:3-amino-5-mercapto-1,2,4-triazole; D014230:Triazoles; D019788:Fluorodeoxyglucose F18