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 journalArticle

15 Citations (Scopus)

Abstract

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
JournalCephalalgia
Volume30
Issue number5
DOIs
Publication statusPublished - May 2010

Fingerprint

Cerebellar Diseases
Neuroimaging
Magnetic Resonance Spectroscopy
Energy Metabolism
Brain
Skeletal Muscle
Diffusion Magnetic Resonance Imaging
Creatine
Lateral Ventricles
Familial type 2 Hemiplegic migraine
Lactic Acid

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2. / Grimaldi, D.; Tonon, C.; Cevoli, S.; Pierangeli, G.; Malucelli, E.; Rizzo, G.; Soriani, S.; Montagna, P.; Barbiroli, B.; Lodi, R.; Cortelli, P.

In: Cephalalgia, Vol. 30, No. 5, 05.2010, p. 552-559.

Research output: Contribution to journalArticle

Grimaldi, D, Tonon, C, Cevoli, S, Pierangeli, G, Malucelli, E, Rizzo, G, Soriani, S, Montagna, P, Barbiroli, B, Lodi, R & Cortelli, P 2010, 'Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2', Cephalalgia, vol. 30, no. 5, pp. 552-559. https://doi.org/10.1111/j.1468-2982.2009.01979.x
Grimaldi, D. ; Tonon, C. ; Cevoli, S. ; Pierangeli, G. ; Malucelli, E. ; Rizzo, G. ; Soriani, S. ; Montagna, P. ; Barbiroli, B. ; Lodi, R. ; Cortelli, P. / Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2. In: Cephalalgia. 2010 ; Vol. 30, No. 5. pp. 552-559.
@article{9902ff695fb6482187a5e0d2d91b400b,
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), 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.",
keywords = "Cerebellum, Diffusion-weighted magnetic resonance imaging, Familial hemiplegic migraine type 2, Magnetic resonance spectroscopy, Skeletal muscle",
author = "D. Grimaldi and C. Tonon and S. Cevoli and G. Pierangeli and E. Malucelli and G. Rizzo and S. Soriani and P. Montagna and B. Barbiroli and R. Lodi and P. Cortelli",
year = "2010",
month = "5",
doi = "10.1111/j.1468-2982.2009.01979.x",
language = "English",
volume = "30",
pages = "552--559",
journal = "Cephalalgia",
issn = "0333-1024",
publisher = "SAGE Publications Ltd",
number = "5",

}

TY - JOUR

T1 - Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2

AU - Grimaldi, D.

AU - Tonon, C.

AU - Cevoli, S.

AU - Pierangeli, G.

AU - Malucelli, E.

AU - Rizzo, G.

AU - Soriani, S.

AU - Montagna, P.

AU - Barbiroli, B.

AU - Lodi, R.

AU - Cortelli, P.

PY - 2010/5

Y1 - 2010/5

N2 - 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.

AB - 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.

KW - Cerebellum

KW - Diffusion-weighted magnetic resonance imaging

KW - Familial hemiplegic migraine type 2

KW - Magnetic resonance spectroscopy

KW - Skeletal muscle

UR - http://www.scopus.com/inward/record.url?scp=77956256758&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77956256758&partnerID=8YFLogxK

U2 - 10.1111/j.1468-2982.2009.01979.x

DO - 10.1111/j.1468-2982.2009.01979.x

M3 - Article

C2 - 19673908

AN - SCOPUS:77956256758

VL - 30

SP - 552

EP - 559

JO - Cephalalgia

JF - Cephalalgia

SN - 0333-1024

IS - 5

ER -