Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2
Corresponding Author
D Grimaldi
Department of Neurological Sciences and
Daniela Grimaldi MD, PhD, Dipartimento di Scienze Neurologiche, Università di Bologna, Via U. Foscolo, 7, 40123 Bologna, Italy. Tel. + 39 51 209 2939, e-mail [email protected]Search for more papers by this authorC Tonon
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorE Malucelli
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorS Soriani
Department of Clinical and Experimental Medicine–Paediatrics, University of Ferrara, Ferrara, Italy
Search for more papers by this authorB Barbiroli
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorR Lodi
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorCorresponding Author
D Grimaldi
Department of Neurological Sciences and
Daniela Grimaldi MD, PhD, Dipartimento di Scienze Neurologiche, Università di Bologna, Via U. Foscolo, 7, 40123 Bologna, Italy. Tel. + 39 51 209 2939, e-mail [email protected]Search for more papers by this authorC Tonon
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorE Malucelli
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorS Soriani
Department of Clinical and Experimental Medicine–Paediatrics, University of Ferrara, Ferrara, Italy
Search for more papers by this authorB Barbiroli
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorR Lodi
MR Spectroscopy Unit, Department of Internal Medicine, Ageing and Nephrology, University of Bologna, Bologna, and
Search for more papers by this authorAbstract
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.
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