Neuropsychological and functional study in a case of partial cerebellar agenesis

Paola Caroppo, Laura Orsi, Federico D'Agata, Bruno Baudino, Andrea Boghi, Federica Avidano, Mario Coriasco, Gianni Boris Bradac, Giancarlo Castellano, Roberto Mutani, Paolo Mortara

Research output: Contribution to journalArticlepeer-review


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 hypoper-fusion can explain the severe cognitive impairment and could be linked to the abnormal cerebellar development.

Original languageEnglish
Pages (from-to)373-383
Number of pages11
Issue number5
Publication statusPublished - Oct 2009


  • Cerebellar agenesis
  • Cerebellum
  • Cognitive functions development
  • fMRI

ASJC Scopus subject areas

  • Clinical Neurology


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