Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2

D. Grimaldi, C. Tonon, S. Cevoli, G. Pierangeli, E. Malucelli, G. Rizzo, S. Soriani, P. Montagna, B. Barbiroli, R. Lodi, P. Cortelli

Research output: Contribution to journalArticlepeer-review


We used multimodal magnetic resonance (MR) techniques [brain diffusion-weighted magnetic resonance imaging, diffusion-weighted imaging (DWI), proton MR spectroscopy (MRS), 1H-MRS; and skeletal muscle phosphorous MRS, 31P-MRS] to investigate interictal brain microstructural changes and tissue energy metabolism in four women with genetically determined familial hemiplegic migraine type 2 (FHM2), belonging to two unrelated families, compared with 10 healthy women. Brain DWI revealed a significant increase of the apparent diffusion coefficient median values in the vermis and cerebellar hemispheres of FHM2 patients, preceding in two subjects the onset of interictal cerebellar deficits. 31P-MRS revealed defective energy metabolism in skeletal muscle of FHM2 patients, while brain 1H-MRS showed a mild pathological increase in lactate in the lateral ventricles of one patient and a mild reduction of cortical N-acetyl-aspartate to creatine ratio in another one. Our MRS results showed that a multisystem energy metabolism defect in FHM2 is associated with microstructural cerebellar changes detected by DWI, even before the onset of cerebellar symptoms.

Original languageEnglish
Pages (from-to)552-559
Number of pages8
Issue number5
Publication statusPublished - May 2010


  • Cerebellum
  • Diffusion-weighted magnetic resonance imaging
  • Familial hemiplegic migraine type 2
  • Magnetic resonance spectroscopy
  • Skeletal muscle

ASJC Scopus subject areas

  • Clinical Neurology


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