Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: A human model for presymptomatic parkinsonism

Brain

Volumn 128, Issue 10, 2005, Pages 2281-2290

  Buhmann, C ^a,b   Binkofski, F ^a,c   Klein, C ^c   Buchel C ^a,b   Van Eimeren, T ^a,b   Erdmann, C ^c   Hedrich, K ^c   Kasten, M ^c   Hagenah, J ^c   Deuschl, G ^d   Pramstaller, P P ^e   Siebner, H R ^a,d  

^a NeuroImage Nord   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

^d UNIVERSITY OF KIEL   (Germany)

^e CENTRAL HOSPITAL OF BOLZANO   (Italy)

Author keywords

Functional magnetic resonance imaging; Motor reorganization; Parkin gene; Parkinson's disease; Presymptomatic parkinsonism

Indexed keywords

ADULT; ALLELE; ARTICLE; BASAL GANGLION; CINGULATE GYRUS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; FEMALE; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENOTYPE; HUMAN; MALE; MOTOR CORTEX; NERVE CELL; PARKINSONISM; PREMOTOR CORTEX; PRIORITY JOURNAL; STRIATONIGRAL DEGENERATION; SYMPTOM; SYNAPTIC TRANSMISSION;

ADULT; AGE OF ONSET; ALLELES; FEMALE; FINGERS; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MODELS, GENETIC; MOTOR CORTEX; MOVEMENT; MUTATION; NEURAL PATHWAYS; PARKINSON DISEASE; PREFRONTAL CORTEX; PSYCHOMOTOR PERFORMANCE; REACTION TIME; UBIQUITIN-PROTEIN LIGASES;

EID: 25444496106     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awh572     Document Type: Article

References (43)

1. Bernheimer H, Birkmayer W, Hornykiewicz O, Jellinger K, Seitelberger F. Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations. J Neurol Sci 1973; 20: 415-55.
2. Bezard E, Dovero S, Prunier C, Ravenscroft P, Chalon S, Guilloteau D, et al. Relationship between the appearance of symptoms and the level of nigrostriatal degeneration in a progressive 1-methyl-4-phenyl-1,2,3,6- tetrahydropyridine-lesioned macaque model of Parkinson's disease. J Neurosci 2001; 21: 6853-61.
3. Bezard E, Ferry S, Mach U, Stark H, Leriche L, Boraud T, et al. Attenuation of levodopa-induced dyskinesia by normalizing dopamine D3 receptor function. Nature Med 2003a; 9: 762-7.
4. Bezard E, Gross CE, Brotchie JM. Presymptomatic compensation in Parkinson's disease is not dopamine-mediated. Trends Neurosci 2003b; 26: 215-21.
5. Botvinick M, Nystrom LE, Fissell K, Carter CS, Cohen JD. Conflict monitoring versus selection-for-action in anterior cingulate cortex. Nature 1999; 402: 179-81.
6. Braak H, Braak E. Pathoanatomy of Parkinson's disease. J Neurol 2000; 247 (Suppl 2): 3-10.
7. Buhmann C, Glauche V, Sturenburg HJ, Oechsner M, Weiller C, Buchel C. Pharmacologically modulated fMRI - cortical responsiveness to levodopa in drug-naive hemiparkinsonian patients. Brain 2003; 126: 451-61.
8. Catalan MJ, Ishii K, Honda M, Samii A, Hallett M. A PET study of sequential finger movements of varying length in patients with Parkinson's disease. Brain 1999; 122: 483-95.
9. Escola L, Michelet T, Macia F, Guehl D, Bioulac B, Burbaud P. Disruption of information processing in the supplementary motor area of the MPTP-treated monkey: a clue to the pathophysiology of akinesia? Brain 2003; 126: 95-114.
10. Fearnley JM, Lees AJ. Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain 1991; 114: 2283-301.
11. Friston KJ, Holmes AP, Poline JB, Grasby PJ, Williams SC, Frackowiak RS, et al. Analysis of fMRI time-series revisited. Neuroimage 1995; 2: 45-53.
12. Friston KJ, Buechel C, Fink GR, Morris J, Rolls E, Dolan RJ. Psychophysiological and modulatory interactions in neuroimaging. Neuroimage 1997; 6: 218-29.
13. Genovese CR, Lazar NA, Nichols T. Thresholding of statistical maps in functional neuroimaging using the false discovery rate. Neuroimage 2002; 15: 870-8.
14. Georgiou N, Bradshaw JL, Iansek R, Phillips JG, Mattingley JB, Bradshaw JA. Reduction in external cues and movement sequencing in Parkinson's disease. J Neurol Neurosurg Psychiatry 1994; 57: 368-70.
15. Haslinger B, Erhard P, Kampfe N, Boecker H, Rummeny E, Schwaiger M, et al. Event-related functional magnetic resonance imaging in Parkinson's disease before and after levodopa. Brain 2001; 124: 558-70.
16. Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001; 10: 1649-56.
17. Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004; 19: 1146-57.
18. Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001; 49: 367-76.
19. Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002; 323: 50-4.
20. Jahanshahi M, Jenkins IH, Brown RG, Marsden CD, Passingham RE, Brooks DJ. Self-initiated versus externally triggered movements. I. An investigation using measurement of regional cerebral blood flow with PET and movement-related potentials in normal and Parkinson's disease subjects. Brain 1995; 118: 913-33.
21. Jenkins IH, Fernandez W, Playford ED, Lees AJ, Frackowiak RS, Passingham RE, et al. Impaired activation of the supplementary motor area in Parkinson's disease is reversed when akinesia is treated with apomorphine. Ann Neurol 1992; 32: 749-57.
22. Jenkins IH, Jahanshahi M, Jueptner M, Passingham RE, Brooks DJ. Self-initiated versus externally triggered movements. II. The effect of movement predictability on regional cerebral blood flow. Brain 2000; 123: 1216-28.
23. Kerns JG, Cohen JD, MacDonald AW III, Cho RY, Stenger VA, Carter CS. Anterior cingulate conflict monitoring and adjustments in control. Science 2004; 303: 1023-6.
24. 18F]dopa PET and clinical study. Brain 2002; 125: 2248-56.
25. Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, et al. Parkin disease: a phenotypic study of a large case series. Brain 2003; 126: 1279-92.
26. Khan NL, Scherfler C, Graham E, Bhatia KP, Quinn N, Lees AJ, et al. Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. Neurology 2005; 64: 134-6.
27. Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000; 48: 65-71.
28. Lehericy S, Ducros M, Van de Moortele PF, Francois C, Thivard L, Poupon C, et al. Diffusion tensor fiber tracking shows distinct corticostriatal circuits in humans. Ann Neurol 2004; 55: 522-9.
29. Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003; 54: 176-85.
30. MacDonald AW III, Cohen JD, Stenger VA, Carter CS. Dissociating the role of the dorsolateral prefrontal and anterior cingulate cortex in cognitive control. Science 2000; 288: 1835-8.
31. Oldfield RC. The assessment and analysis of handedness: the Edinburgh inventory. Neuropsychologia 1971; 9: 97-113.
32. Pessiglione M, Guehl D, Agid Y, Hirsch EC, Feger J, Tremblay L. Impairment of context-adapted movement selection in a primate model of presymptomatic Parkinson's disease. Brain 2003; 126: 1392-408.
33. Picard N, Strick PL. Imaging the premotor areas. Curr Opin Neurobiol 2001; 11: 663-72.
34. Piccini P, Burn DJ, Ceravolo R, Maraganore D, Brooks DJ. The role of inheritance in sporadic Parkinson's disease: evidence from a longitudinal study of dopaminergic function in twins. Ann Neurol 1999; 45: 577-82.
35. Playford ED, Jenkins IH, Passingham RE, Nutt J, Frackowiak RS, Brooks DJ. Impaired mesial frontal and putamen activation in Parkinson's disease: a positron emission tomography study. Ann Neurol 1992; 32: 151-61.
36. Price CJ, Friston KJ. Scanning patients with tasks they can perform. Hum Brain Mapp 1999; 8: 102-8.
37. Rowe J, Stephan KE, Friston K, Frackowiak R, Lees A, Passingham R. Attention to action in Parkinson's disease: impaired effective connectivity among frontal cortical regions. Brain 2002; 125: 276-89.
38. Sabatini U, Boulanouar K, Fabre N, Martin F, Carel C, Colonnese C, et al. Cortical motor reorganization in akinetic patients with Parkinson's disease: a functional MRI study. Brain 2000; 123: 394-403.
39. Samuel M, Ceballos-Baumann AO, Blin J, Uema T, Boecker H, Passingham RE, et al. Evidence for lateral premotor and parietal overactivity in Parkinson's disease during sequential and bimanual movements. A PET study. Brain 1997; 120: 963-76.
40. Scherfler C, Khan NL, Pavese N, Eunson L, Graham E, Lees AJ, et al. Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism. Brain 2004; 127: 1332-42.
41. Selemon LD, Goldman-Rakic PS. Longitudinal topography and interdigitation of corticostriatal projections in the rhesus monkey. J Neurosci 1985; 5: 776-94.
42. Stocchi F, Olanow CW. Neuroprotection in Parkinson's disease: clinical trials. Ann Neurol 2003; 53 (Suppl 3): S87-97.
43. Yeterian EH, Van Hoesen GW. Cortico-striate projections in the rhesus monkey: the organization of certain cortico-caudate connections. Brain Res 1978; 139: 43-63.