Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: Voxel-based morphometric study

Neurology

Volumn 73, Issue 8, 2009, Pages 606-611

  Koskenkorva, P ^a   Khyuppenen, J ^a   Niskanen, E ^a   Kononen M ^a   Bendel, P ^a   Mervaala, E ^a   Lehesjoki, A E ^b   Kalviainen R ^a   Vanninen, R ^a  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; BRAIN ATROPHY; BRAIN SIZE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GRAY MATTER; HUMAN; MALE; MOTOR CORTEX; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RATING SCALE; SEX DIFFERENCE; THALAMUS;

EID: 69449095250     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b3888b     Document Type: Article

References (33)

1. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Engl J Med 1986;315:296-305. (Pubitemid 16099975)
2. Pennacchio LA, Lehesjoki AE, Stone NE, et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996;271:1731-1734. (Pubitemid 26102822)
3. Genton P, Michelucci R, Tassinari CA, Roger J. The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand 1990;81:8-15. (Pubitemid 20067131)
4. Norio R, Koskiniemi M. Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 1979;15:382-398. (Pubitemid 9171393)
5. Kälviäinen R, Khyuppenen J, Koskenkorva P, Eriksson K, Vanninen R, Mervaala E. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008;49:549-556.
6. Mascalchi M, Michelucci R, Cosottini M, et al. Brainstem involvement in Unverricht-Lundborg disease (EPM1): an MRI and 1H MRS study. Neurology 2002;58:1686-1689. (Pubitemid 34602905)
7. Parmeggiani A, Lehesjoki AE, Carelli V, et al. Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study. Epilepsia 1997;38:637-641. (Pubitemid 27251207)
8. Korja M, Kaasinen V, Lamusuo S, Parkkola R, Nagren K, Marttila RJ. Substantial thalamostriatal dopaminergic defect in Unverricht-Lundborg disease. Epilepsia 2007;48:1768-1773. (Pubitemid 47352864)
9. Chew NK, Mir P, Edwards MJ, et al. The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. Mov Disord 2008;23:107-113. (Pubitemid 351281226)
10. Santoshkumar B, Turnbull J, Minassian BA. Unverricht-Lundborg progressive myoclonus epilepsy in Oman. Pediatr Neurol 2008;38:252-255.
11. Hamalainen A, Tervo S, Grau-Olivares M, et al. Voxel-based morphometry to detect brain atrophy in progressive mild cognitive impairment. Neuroimage 2007;37:1122-1131. (Pubitemid 47385281)
12. Mezzapesa DM, Ceccarelli A, Dicuonzo F, et al. Whole-brain and regional brain atrophy in amyotrophic lateral sclerosis. AJNR Am J Neuroradiol 2007;28:255-259. (Pubitemid 46281040)
13. Beyer MK, Janvin CC, Larsen JP, Aarsland D. A magnetic resonance imaging study of patients with Parkinson's disease with mild cognitive impairment and dementia using voxel-based morphometry. J Neurol Neurosurg Psychiatr 2007;78:254-259. (Pubitemid 46579662)
14. Kim JH, Lee JK, Koh SB, et al. Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study. Neuroimage 2007;37:1132-1137.
15. Focke NK. Correlation of cognitive functions with voxelbased morphometry in patients with hippocampal sclerosis. Epilepsy Behav 2008;12:472-476.
16. Spencer MD, Moorhead TWJ, McIntosh AM, et al. Grey matter correlates of early psychotic symptoms in adolescents at enhanced risk of psychosis: a voxel-based study. Neuroimage 2007;35:1181-1191.
17. Frucht SJ, Leurgans SE, Hallett M, Fahn S. The Unified Myoclonus Rating Scale. Adv Neurol 2002;89:361-376.
18. Ashburner J, Friston KJ. Voxel-based morphometry: the methods. Neuroimage 2000;11:805-821.
19. Good C, Henson R, Friston K, Johnsrude I, Ashburner J, Frackowiak R. A voxel-based morphometric study of ageing in 465 normal adult human brains. Neuroimage 2001;14:21-36. (Pubitemid 32552740)
20. Lancaster JL, Woldorff MG, Parsons LM, et al. Automated Talairach atlas labels for functional brain mapping. Hum Brain Mapp 2000;10:120-131.
21. Duvernoy HM. The Human Brain: Surface, Blood Supply and Three-Dimensional Sectional Anatomy with MRI. 2nd ed. Wien: Springer-Verlag; 1999.
22. Joensuu T, Lehesjoki AE, Kopra O. Molecular background of EPM1-Unverricht-Lundborg disease. Epilepsia 2008;49:557-563.
23. Koskiniemi M, Donner M, Majuri H, Haltia M, Norio R. Progressive myoclonus epilepsy: a clinical and histopathological study. Acta Neurol Scand 1974;50:307-332.
24. Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol 2004;3:598-607. (Pubitemid 39221926)
25. Canafoglia L, Ciano C, Panzica F, et al. Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology 2004;63:2309-2315. (Pubitemid 40024342)
26. Forss N, Silen T, Karjalainen T. Lack of activation of human secondary somatosensory cortex in Unverricht-Lundborg type of progressive myoclonus epilepsy. Ann Neurol 2001;49:90-97. (Pubitemid 32163009)
27. Silen T, Forss N, Jensen O, Hari R. Abnormal reactivity of the approximately 20-hz motor cortex rhythm in Unverricht-Lundborg type progressive myoclonus epilepsy. Neuroimage 2000;12:707-712.
28. Silen T, Forss N, Salenius S, Karjalainen T, Hari R. Oscillatory cortical drive to isometrically contracting muscle in Unverricht-Lundborg type progressive myoclonus epilepsy (ULD). Clin Neurophysiol 2002;113:1973-1979.
29. Silen T, Karjalainen T, Lehesjoki AE, Forss N. Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures. Neurosci Lett 2002;323:101-104. (Pubitemid 34310250)
30. Visani E, Agazzi P, Canafoglia L, et al. Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht-Lundborg disease. Neuroimage 2006;33:161-168. (Pubitemid 44397600)
31. Mervaala E, Partanen JV, Keranen T, Penttila M, Riekkinen P. Prolonged cortical somatosensory evoked potential latencies in progressive myoclonus epilepsy. J Neurol Sci 1984;64:131-135. (Pubitemid 14111136)
32. Mervaala E, Keranen T, Paakkonen A, Partanen JV, Riekkinen P. Visual evoked potentials, brainstem auditory evoked potentials, and quantitative EEG in Baltic progressive myoclonus epilepsy. Epilepsia 1986;27:542-547. (Pubitemid 16026050)
33. Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 2006;47:860-866. (Pubitemid 44030180)