Diffusion tensor imaging in presymptomatic and early Huntington's disease: Selective white matter pathology and its relationship to clinical measures

Movement Disorders

Volumn 21, Issue 9, 2006, Pages 1317-1325

  Rosas, H Diana ^a   Tuch, David S ^a   Hevelone, Nathanael D ^a   Zaleta, Alexandra K ^a   Vangel, Mark ^a   Hersch, Steven M ^a   Salat, David H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Huntington's disease

Indexed keywords

ADULT; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; CAPSULA INTERNA; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; CONTROLLED STUDY; CORPUS CALLOSUM; DEMOGRAPHY; DIAGNOSTIC VALUE; DIFFUSION TENSOR IMAGING; FEMALE; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; IMAGE PROCESSING; MALE; MOTOR DYSFUNCTION; PRIORITY JOURNAL; PYRAMIDAL TRACT; STUDENT T TEST; SYMPTOM; WHITE MATTER;

ADULT; ATROPHY; BASAL GANGLIA; BRAIN; CEREBRAL CORTEX; CORPUS CALLOSUM; DIFFUSION MAGNETIC RESONANCE IMAGING; EARLY DIAGNOSIS; EXTRAPYRAMIDAL TRACTS; FEMALE; FRONTAL LOBE; HUMANS; HUNTINGTON DISEASE; IMAGE PROCESSING, COMPUTER-ASSISTED; INTERNAL CAPSULE; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; NEURAL PATHWAYS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PARIETAL LOBE; PYRAMIDAL TRACTS;

EID: 33750358024     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.20979     Document Type: Article

References (42)

1. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell 1993;72:971-983.
2. Ferrante RJ, Gutekunst CA, Persichetti F, et al. Heterogeneous topographic and cellular distribution of huntingtin expression in the normal human neostriatum. J Neurosci 1997;17:3052-3063.
3. Sapp E, Schwarz C, Chase K, et al. Huntingtin localization in brains of normal and Huntington's disease patients. Ann Neurol 1997;42:604-612.
4. Rosas HD, Liu AK, Hersch S, et al. Regional and progressive thinning of the cortical ribbon in Huntington's disease. Neurology 2002;58:695-701.
5. Thieben MJ, Duggins AJ, Good CD, et al. The distribution of structural neuropathology in pre-clinical Huntington's disease. Brain 2002;125(Pt 8):1815-1828.
6. de la Monte SM, Vonsattel JP, Richardson EP Jr. Morphometric demonstration of atrophic changes in the cerebral cortex, white matter, and neostriatum in Huntington's disease. J Neuropathol Exp Neurol 1988;47:516-525.
7. Vonsattel JP, Myers RH, Stevens TJ, et al. Neuropathological classification of Huntington's disease. J Neuropathol Exp Neurol 1985;44:559-577.
8. Beaulieu C, Allen PS. Water diffusion in the giant axon of the squid: implications for diffusion-weighted MRI of the nervous system. Magn Reson Med 1994;32:579-583.
9. Mamata H, Jolesz FA, Maier SE. Characterization of central nervous system structures by magnetic resonance diffusion anisotropy. Neurochem Int 2004;45:553-560.
10. Rosas HD, Koroshetz WJ, Chen YI, et al. Evidence for more widespread cerebral pathology in early HD: an MRI-based morphometric analysis. Neurology 2003;60:1615-1620.
11. Kassubek J, Juengling FD, Kioschies T, et al. Topography of cerebral atrophy in early Huntington's disease: a voxel based morphometric MRI study. J Neurol Neurosurg Psychiatry 2004; 75:213-220.
12. Lange H, Thorner G, Hopf A, Schroder KF. Morphometric studies of the neuropathological changes in choreatic diseases. J Neurol Sci 1976;28:401-425.
13. Mann DM, Oliver R, Snowden JS. The topographic distribution of brain atrophy in Huntington's disease and progressive supranuclear palsy. Acta Neuropathol (Berl) 1993;85:553-559.
14. Jernigan TL, Salmon DP, Butters N, Hesselink JR. Cerebral structure on MRI, Part II: specific changes in Alzheimer's and Huntington's diseases. Biol Psychiatry 1991;29:68-81.
15. Marder K, Zhao H, Myers RH, et al. Rate of functional decline in Huntington's disease. Huntington Study Group. Neurology 2000; 54:452-458.
16. Shoulson I, Fahn S. Huntington disease: clinical care and evaluation. Neurology 1979;29:1-3.
17. Reese TG, Heid O, Weisskoff RM, Wedeen VJ. Reduction of eddy-current-induced distortion in diffusion MRI using a twice-refocused spin echo. Magn Reson Med 2003;49:177-182.
18. Jenkinson M, Bannister P, Brady M, Smith S. Improved optimization for the robust and accurate linear registration and motion correction of brain images. Neuroimage 2002;17:825-841.
19. Smith SM, Zhang Y, Jenkinson M, et al. Accurate, robust, and automated longitudinal and cross-sectional brain change analysis. Neuroimage 2002;17:479-489.
20. Salat D, Tuch DS, Greve DN, et al. Age-related alterations in white matter microstructure measured by diffusion tensor imaging. Neurobiol Aging 2005;26:1215-1227
21. Rosas HD, Hevelone ND, Zaleta AK, et al. Regional cortical thinning in preclinical Huntington disease and its relationship to cognition. Neurology 2005;65:745-747.
22. 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.
23. Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004;65: 267-277.
24. Albin RL, Young AB, Penney JB. The functional anatomy of disorders of the basal ganglia. Trends Neurosci 1995;18:63-64.
25. Fennema-Notestine C, Archibald SL, Jacobson MW, et al. In vivo evidence of cerebellar atrophy and cerebral white matter loss in Huntington disease. Neurology 2004;63:989-995.
26. Gutekunst CA, Li SH, Yi H, et al. Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J Neurosci 1999;19:2522-2534.
27. Seltzer B, Pandya DN. Posterior parietal projections to the intraparietal sulcus of the rhesus monkey. Exp Brain Res 1986;62:459-469.
28. Brandt J, Shpritz; B, Codori AM, Margolis R, Rosenblatt A. Neuropsychological manifestations of the genetic mutation for Huntington's disease in presymptomatic individuals. J Int Neuropsychol Soc 2002;8:918-924.
29. Kirkwood SC, Siemers E, Hodes ME, et al. Subtle changes among presymptomatic carriers of the Huntington's disease gene. J Neurol Neurosurg Psychiatry 2000;69:773-779.
30. Lawrence AD, Hodges JR, Rosser AE, et al. Evidence for specific cognitive deficits in preclinical Huntington's disease. Brain 1998; 121(Pt 7):1329-1341.
31. Knopman D, Nissen MJ. Procedural learning is impaired in Huntington's disease: evidence from the serial reaction time task. Neuropsychologia 1991;29:245-254.
32. Maat-Schieman ML, Dorsman JC, Smoor MA, et al. Distribution of inclusions in neuronal nuclei and dystrophic neurites in Huntington disease brain. J Neuropathol Exp Neurol 1999;58:129-137.
33. Gutekunst CA, Li SH, Yi H, et al. The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human. J Neurosci 1998;18:7674-7686.
34. Gourfinkel-An I, Cancel G, Trottier Y, et al. Differential distribution of the normal and mutated forms of huntingtin in the human brain. Ann Neurol 1997;42:712-719.
35. Li H, Li SH, Cheng AL, et al. Ultrastructural localization and progressive formation of neuropil aggregates in Huntington's disease transgenic mice. Hum Mol Genet 1999;8:1227-1236.
36. Trottier Y, Devys D, Imbert G, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 1995; 10: 104-110.
37. DiFiglia M, Sapp E, Chase K, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 1995;14:1075-1081.
38. Hersch SM, Rosas HD, Ferrante RJ. Neuropathology and Pathophysiology of Huntington's disease. In: Watts RL, Koller WC, editors. Movement disorders. New York: McGraw-Hill; 2004. p 603-627.
39. DiFiglia M, Sapp E, Chase KO, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997;277:1990-1993.
40. Sapp E, Penney J, Young A, et al. Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. J Neuropathol Exp Neurol 1999;58:165-173.
41. Mascalchi M, Lolli F, Della Nave R, et al. Huntington disease: volumetric, diffusion-weighted, and magnetization transfer MR imaging of brain. Radiology 2004;232:867-873.
42. Vonsattel JP, DiFiglia M. Huntington disease. J Neuropathol Exp Neurol 1998;57:369-384.