title: Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2.
abstract: We used multimodal magnetic resonance (MR) techniques [brain diffusion-weighted magnetic resonance imaging, diffusion-weighted imaging (DWI), proton MR spectroscopy (MRS), (1)H-MRS; and skeletal muscle phosphorous MRS, (31)P-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. (31)P-MRS revealed defective energy metabolism in skeletal muscle of FHM2 patients, while brain (1)H-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.
authors: Department of Neurological Sciences, University of Bologna, Bologna, Italy. daniela.grimaldi@unibo.it
authors: D
authors: D
authors: Grimaldi
authors: C
authors: C
authors: Tonon
authors: S
authors: S
authors: Cevoli
authors: G
authors: G
authors: Pierangeli
authors: E
authors: E
authors: Malucelli
authors: G
authors: G
authors: Rizzo
authors: S
authors: S
authors: Soriani
authors: P
authors: P
authors: Montagna
authors: B
authors: B
authors: Barbiroli
authors: R
authors: R
authors: Lodi
authors: P
authors: P
authors: Cortelli
mesh_terms: D000328:Adult; D002526:Cerebellar Diseases / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D020325:Migraine with Aura / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*