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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.
We wish to thank Dr. Cristina Manzone, Dr. Chiara Caroppo and Dr. Steve Valeri for their contribution to this paper. This research was supported by Banca San Paolo, “Cervelletto e cognitività” 2005–2006.
Notes
*Paola Caroppo and Laura Orsi contributed equally to this work.
