Neuropsychological and functional study in a case of partial cerebellar agenesis.
Cerebellar agenesis is a rare disorder. We present the neurological and neuropsychological features of a patient with partial cerebellar agenesis (TZ), together with SPECT perfusion and fMRI activation during a finger tapping task. TZ shows only mild cerebellar signs, while neuropsychological testing discloses severe deficits in many domains, in accordance with the theorized role of the cerebellum in cognition. FMRI and SPECT demonstrate an activation and a symmetrical perfusion of the cerebellar remnants, that can be related to the residual cerebellar motor function. The left frontal and parieto-temporal cortex hypoperfusion can explain the severe cognitive impairment and could be linked to the abnormal cerebellar development.
Caroppo
Paola
P
Department of Neuroscience, AOU San Giovanni Battista, Turin, Italy.
Orsi
Laura
L
D'Agata
Federico
F
Baudino
Bruno
B
Boghi
Andrea
A
Avidano
Federica
F
Coriasco
Mario
M
Bradac
Gianni Boris
GB
Castellano
Giancarlo
G
Mutani
Roberto
R
Mortara
Paolo
P
D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000503:physiopathology; D001931:Brain Mapping; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology*; D002560:Cerebrovascular Circulation; D003072:Cognition Disorders; D005260:Female; D005385:Fingers / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009043:Motor Activity / Q000502:physiology*; D009483:Neuropsychological Tests; D015899:Tomography, Emission-Computed, Single-Photon