Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2

Cephalalgia

Volumn 30, Issue 5, 2010, Pages 552-559

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

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

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

Indexed keywords

CREATINE; LACTIC ACID; N ACETYLASPARTIC ACID;

ADOLESCENT; ADULT; ARTICLE; BRAIN METABOLISM; CASE REPORT; CEREBELLUM DISEASE; CEREBELLUM VERMIS; CONTROLLED STUDY; DIFFUSION COEFFICIENT; DIFFUSION WEIGHTED IMAGING; ENERGY METABOLISM; FAMILIAL HEMIPLEGIC MIGRAINE; FAMILIAL HEMIPLEGIC MIGRAINE TYPE 2; FEMALE; HUMAN; INTERICTAL CEREBELLAR DYSFUNCTION; LATERAL BRAIN VENTRICLE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PROTON NUCLEAR MAGNETIC RESONANCE;

ADULT; CEREBELLAR DISEASES; CEREBELLUM; DIFFUSION MAGNETIC RESONANCE IMAGING; FEMALE; HUMANS; MIGRAINE WITH AURA; MUSCLE, SKELETAL;

EID: 77956256758     PISSN: 03331024     EISSN: 14682982     Source Type: Journal    
DOI: 10.1111/j.1468-2982.2009.01979.x     Document Type: Article

References (38)

1. Headache Subcommittee of the International Headache Society. The International Classification of Headache Disorders: 2nd edition. Cephalalgia 2004;24(Suppl. 1):9-160.
2. Ducros A, Tournier-Lasserve E, Bousser MG. The genetics of migraine. Lancet Neurol 2002;1:285-93.
3. Terwindt GM, Ophoff RA, Haan J, Vergouwe MN, van Eijk R, Frants RR, Ferrari MD. Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Neurology 1998;50:1105-10.
4. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, et al. Haplo insufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003;33:192-6.
5. Jurkat-Rott K, Freilinger T, Dreier JP, Herzog J, Gobel H, Petzold GC, et al. Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology 2004;62:1857-61.
6. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005;366:371-7.
7. Cevoli S, Pierangeli G, Monari L, Valentino ML, Bernardoni P, Mochi M, et al. Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family. Neurol Sci 2002;23:7-10.
8. Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, et al. A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics 2004;5:177-85.
9. Montagna P. Magnetic resonance spectroscopy in migraine. Cephalalgia 1995;15:323-7.
10. Lodi R, Iotti S, Cortelli P, Pierangeli G, Cevoli S, Clementi V, et al. Deficient energy metabolism is associated with low free magnesium in the brains of patients with migraine and cluster headache. Brain Res Bull 2001;54:437-41.
11. Uncini A, Lodi R, Di Muzio A, Silvestri G, Servidei S, Lugaresi A, et al. Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine. J Neurol Sci 1995;129:214-22.
12. Boska MD, Welch KM, Barker PB, Nelson JA, Schultz L. Contrasts in cortical magnesium, phospholipid and energy metabolism between migraine syndromes. Neurology 2002;58:1227-33.
13. Schulz UG, Blamire AM, Corkill RG, Davies P, Styles P, Rothwell PM. Association between cortical metabolite levels and clinical manifestations of migrainous aura: an MR-spectroscopy study. Brain 2007;130:3102-10.
14. Rudkin TM, Arnold DL. Proton magnetic resonance spectroscopy for the diagnosis and management of cerebral disorders. Arch Neurol 1999;56:919-26.
15. Dichgans M, Herzog J, Freilinger T, Wilke M, Auer DP. 1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1. Neurology 2005;64:608-13.
16. Seppi K, Schocke MF. An update on conventional and advanced magnetic resonance imaging techniques in the differential diagnosis of neurodegenerative parkinsonism. Curr Opin Neurol 2005;18:370-5.
17. Le Bihan D, Breton E, Lallemand D, Grenier P, Cabanis E, Laval-Jeantet M. MR imaging of intravoxel incoherent motions: application to diffusion and perfusion in neurologic disorders. Radiology 1986;161:401-7.
18. Nicoletti G, Lodi R, Condino F, Tonon C, Fera F, Malucelli E, et al. Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy. Brain 2006;129:2679-87.
19. Lodi R, Tonon C, Stracciari A, Weiger M, Camaggi V, Iotti S, et al. Diffusion MRI shows increased water apparent diffusion coefficient in the brains of cirrhotics. Neurology 2004;62:762-6.
20. Della Nave R, Foresti S, Tessa C, Moretti M, Ginestroni A, Gavazzi C, et al. ADC mapping of neurodegeneration in the brainstem and cerebellum of patients with progressive ataxias. Neuroimage 2004;22:698-705.
21. Martinelli P, Rizzo G, Manners D, Tonon C, Pizza F, Testa C, et al. Diffusion-weighted imaging study of patients with essential tremor. Mov Disord 2007;22:1182-5.
22. Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;62:1297-302.
23. Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-9.
24. Lodi R, Montagna P, Cortelli P, Iotti S, Cevoli S, Carelli V, Barbiroli B. 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain 2000;123:1896-902.
25. Kemp GJ, Taylor DJ, Radda GK. Control of phosphocreatine resynthesis during recovery from exercise in human skeletal muscle. NMR Biomed 1993;6:66-72.
26. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1986;1:307-10.
27. Lodi R, Kemp GJ, Montagna P, Pierangeli G, Cortelli P, Iotti S, et al. Quantitative analysis of skeletal muscle bioenergetics and proton efflux in migraine and cluster headache. J Neurol Sci 1997;146:73-80.
28. Sarchielli P, Tarducci R, Presciutti O, Gobbi G, Pelliccioli GP, Stipa G, et al. Functional 1H-MRS findings in migraine patients with and without aura assessed interictally. Neuroimage 2005;24:1025-31.
29. Watanabe H, Kuwabara T, Ohkubo M, Sakai K, Tsuji S. Elevation of cerebral lactate detected by localized 1H magnetic resonance spectroscopy in a patient with migraine. Rinsho Shinkeigaku 1994;34:504-7.
30. Watanabe H, Kuwabara T, Ohkubo M, Tsuji S, Yuasa T. Elevation of cerebral lactate detected by localized 1H-magnetic resonance spectroscopy in migraine during the interictal period. Neurology 1996;47:1093-5.
31. La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, et al. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 2008;4:762-70.
32. Oberndorfer S, Wober C, Nasel C, Asenbaum S, Lahrmann H, Fueger B, Grisold W. Familial hemiplegic migraine: follow-up findings of diffusion-weighted magnetic resonance imaging (MRI), perfusion-MRI and [99mTc] HMPAO-SPECT in a patient with prolonged hemiplegic aura. Cephalalgia 2004;24:533-9.
33. Butteriss DJ, Ramesh V, Birchall D. Serial MRI in a case of familial hemiplegic migraine. Neuroradiology 2003;45:300-3.
34. Chabriat H, Vahedi K, Clark CA, Poupon C, Ducros A, Denier C, et al. Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene. Neurology 2000;54:510-12.
35. Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, et al. A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics 2004;5:177-85.
36. Rocca MA, Pagani E, Colombo B, Tortorella P, Falini A, Comi G, Filippi M. Selective diffusion changes of the visual pathways in patients with migraine: a 3-T tractography study. Cephalalgia 2008;28:1061-8.
37. Pietrobon D. Familial hemiplegic migraine. Neurotherapeutics 2007;4:274-84.
38. Cholet N, Pellerin L, Magistretti PJ, Hamel E. Similar perisynaptic glial localization for the Na+, K+-ATPase alpha 2 subunit and the glutamate transporters GLAST and GLT-1 in the rat somatosensory cortex. Cereb Cortex 2002;12:515-25.