title: Neuropsychological and functional study in a case of partial cerebellar agenesis.
abstract: 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.
authors.affiliation: Department of Neuroscience, AOU San Giovanni Battista, Turin, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Caroppo
authors.forename: Laura
authors.initials: L
authors.lastname: Orsi
authors.forename: Federico
authors.initials: F
authors.lastname: D'Agata
authors.forename: Bruno
authors.initials: B
authors.lastname: Baudino
authors.forename: Andrea
authors.initials: A
authors.lastname: Boghi
authors.forename: Federica
authors.initials: F
authors.lastname: Avidano
authors.forename: Mario
authors.initials: M
authors.lastname: Coriasco
authors.forename: Gianni Boris
authors.initials: GB
authors.lastname: Bradac
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Castellano
authors.forename: Roberto
authors.initials: R
authors.lastname: Mutani
authors.forename: Paolo
authors.initials: P
authors.lastname: Mortara
mesh_terms: 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