Cerebral cortex involvement in Machado-Joseph disease

European Journal of Neurology

Volumn 22, Issue 2, 2015, Pages 277-283

  de Rezende, T J R ^a   D'Abreu, A ^a   Guimaraes R P ^a   Lopes, T M ^a   Lopes Cendes, I ^a   Cendes, F ^a   Castellano, G ^a   Franca M C ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Cerebral cortex; Cortical thickness; FreeSurfer; Machado Joseph disease; Neuropsychological tests

Indexed keywords

ADULT; ARTICLE; ASSESSMENT OF HUMANS; BASAL GANGLION; BRAIN CORTEX ATROPHY; BRAIN DAMAGE; BRAIN REGION; BRAIN SIZE; BRAIN STEM; CAG REPEAT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL THICKNESS (BRAIN); DISEASE PREDISPOSITION; FEMALE; HIPPOCAMPUS; HUMAN; IMAGING SOFTWARE; LEFT HEMISPHERE; MACHADO JOSEPH DISEASE; MALE; MIDDLE FRONTAL GYRUS; NEUROIMAGING; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; OCCIPITAL CORTEX; ONSET AGE; PRIMARY MOTOR CORTEX; PRIORITY JOURNAL; RIGHT HEMISPHERE; SCALE FOR ASSESSMENT AND RATING OF ATAXIA; SUPERIOR TEMPORAL GYRUS; SUPRAMARGINAL GYRUS; TEMPORAL GYRUS; THREE DIMENSIONAL IMAGING; VOLUMETRY; ATROPHY; BRAIN CORTEX; MIDDLE AGED; PATHOLOGY;

ADULT; ATROPHY; BASAL GANGLIA; BRAIN STEM; CEREBRAL CORTEX; FEMALE; HUMANS; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED;

EID: 84920568031     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12559     Document Type: Article

References (38)

1. D'Abreu A, França MC Jr, Paulson HL, Lopes-Cendes I. Caring for Machado-Joseph disease: current understanding and how to help patients. Parkinsonism Relat Disord 2010; 16: 2-7.
2. D'Abreu A, França MC Jr, Yasuda CL, Souza MS, Lopes-Cendes I, Cendes F. Thalamic volume and dystonia in Machado-Joseph disease. J Neuroimaging 2011; 21: 91-93.
3. Schulz JB, Borkert J, Wolf S, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 2010; 49: 158-168.
4. Guimaraes RP, D'Abreu A, Yasuda CL, et al. A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3. Mov Disord 2013; 28: 1125-1132.
5. Tokumaru AM, Kamakura K, Maki T, et al. Magnetic resonance imaging findings of Machado-Joseph disease: histopathologic correlation. J Comput Assist Tomogr 2003; 27: 241-248.
6. Rub U, Brunt ER, Deller T. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). Curr Opin Neurol 2008; 21: 111-116.
7. D'Abreu A, França MC Jr, Yasuda CL, Campos BA, Lopes-Cendes I, Cendes F. Neocortical atrophy in Machado-Joseph disease: a longitudinal neuroimaging study. J Neuroimaging 2012; 22: 285-291.
8. Etchebehere EC, Cendes F, Lopes-Cendes I, Pereira JA, Lima MC, Sansana CR, et al. Brain single-photon emission computed tomography and magnetic resonance imaging in Machado-Joseph disease. Arch Neurol 2001; 58: 1257-1263.
9. Lopes TM, D'Abreu A, França MC Jr, et al. Widespread neuronal damage and cognitive dysfunction in spinocerebellar ataxia type 3. J Neurol 2013; 260: 2370-2379.
10. Kawai Y, Takeda A, Abe Y, Washimi Y, Tanaka F, Sobue G. Cognitive impairments in Machado-Joseph disease. Arch Neurol 2004; 61: 1757-1760.
11. Fischl B, Dale AM. Measuring the thickness of the human cerebral cortex from magnetic resonance images. Proc Natl Acad Sci USA 2000; 97: 11050-11055.
12. Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006; 66: 1717-1720.
13. Hutton C, Draganski B, Ashburner J, Weiskopf N. A comparison between voxel-based cortical thickness and voxel-based morphometry in normal aging. Neuroimage 2009; 48: 371-380.
14. Talairach J, Tournoux P. Co-planar Stereotaxic Atlas of the Human Brain. New York: Thieme, 1988.
15. Buckner RL, Head D, Parker J, et al. A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: reliability and validation against manual measurement of total intracranial volume. Neuroimage 2004; 23: 724-738.
16. Fischl B, Salat DH, Busa E, et al. Whole brain segmentation: automated labeling of neuroanatomical structures in the human brain. Neuron 2002; 33: 341-355.
17. Fischl B, van der Kouwe A, Destrieux C, et al. Automatically parcellating the human cerebral cortex. Cereb Cortex 2004; 14: 11-22.
18. Desikan RS, Segonne F, Fischl B, et al. An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. Neuroimage 2006; 31: 968-980.
19. Durr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996; 39: 490-499.
20. Seidel K, Siswanto S, Brunt ER, den Dunnen W, Korf HW, Rub U. Brain pathology of spinocerebellar ataxias. Acta Neuropathol 2012; 124: 1-21.
21. Paulson HL, Das SS, Crino PB, et al. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 1997; 41: 453-462.
22. Costa MC, Paulson HL. Toward understanding Machado-Joseph disease. Prog Neurobiol 2012; 97: 239-257.
23. Rub U, Gierga K, Brunt ER, et al. Spinocerebellar ataxias types 2 and 3: degeneration of the pre-cerebellar nuclei isolates the three phylogenetically defined regions of the cerebellum. J Neural Transm 2005; 112: 1523-1545.
24. Goel G, Pal PK, Ravishankar S, et al. Gray matter volume deficits in spinocerebellar ataxia: an optimized voxel based morphometric study. Parkinsonism Relat Disord 2011; 17: 521-527.
25. Park H-J, Lee JD, Kim EY, et al. Morphological alterations in the congenital blind based on the analysis of cortical thickness and surface area. Neuroimage 2009; 47: 98-106.
26. Ashburner J. Computational anatomy with the SPM software. Magn Res Imaging 2009; 27: 1163-1174.
27. Ashburner J, Friston KJ. Voxel-based morphometry - the methods. Neuroimage 2000; 11: 805-821.
28. Dale AM, Fischl B, Sereno MI. Cortical surface-based analysis. I. Segmentation and surface reconstruction. Neuroimage 1999; 9: 179-194.
29. Fischl B, Sereno MI, Dale AM. Cortical surface-based analysis. II: Inflation, flattening, and a surface-based coordinate system. Neuroimage 1999; 9: 195-207.
30. MacDonald D, Kabani N, Avis D, Evans AC. Automated 3-D extraction of inner and outer surfaces of cerebral cortex from MRI. Neuroimage 2000; 12: 340-356.
31. Kim JS, Singh V, Lee JK, et al. Automated 3-D extraction and evaluation of the inner and outer cortical surfaces using a Laplacian map and partial volume effect classification. Neuroimage 2005; 27: 210-211.
32. Pereira JB, Ibarretxe-Bilbao N, Marti MJ, et al. Assessment of cortical degeneration in patients with Parkinson's disease by voxel-based morphometry, cortical folding, and cortical thickness. Hum Brain Mapp 2012; 33: 2521-2534.
33. Voets NL, Hough MG, Douaud G, et al. Evidence for abnormalities of cortical development in adolescent-onset schizophrenia. Neuroimage 2008; 43: 665-675.
34. Schmitz-Hübsch T, Coudert M, Bauer P, et al. Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. Neurology 2008; 71: 982-989.
35. Braga-Neto P, Dutra LA, Pedroso JL, et al. Cognitive deficits in Machado-Joseph disease correlate with hypoperfusion of visual system areas. Cerebellum 2012; 11: 1037-1044.
36. Schmahmann JD, Sherman JC. The cerebellar cognitive affective syndrome. Brain 1998; 121: 561-579.
37. Zamboni G, de Jager CA, Drazich E, et al. Structural and functional bases of visuospatial associative memory in older adults. Neurobiol Aging 2013; 34: 961-972.
38. Porro CA, Francescato MP, Cettolo V, et al. Primary motor and sensory cortex activation during motor performance and motor imagery: a functional magnetic resonance imaging study. J Neurosci 1996; 16: 7688-7698.