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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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 (US)
Pages (from-to)552-559
Number of pages8
Issue number5
StatePublished - 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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