Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease

Journal of Nuclear Medicine

Volumn 47, Issue 2, 2006, Pages 215-222

  Ciarmiello, Andrea ^a   Cannella, Milena ^b   Lastoria, Secondo ^a   Simonelli, Maria ^b   Frati, Luigi ^b,c   Rubinsztein, David C ^d   Squitieri, Ferdinando ^b  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b IRCCS NEUROMED   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Huntington's disease; MRI; PET

Indexed keywords

FLUORODEOXYGLUCOSE F 18; GLUCOSE; DIAGNOSTIC AGENT; RADIOPHARMACEUTICAL AGENT;

ADULT; ARTICLE; BRAIN SIZE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORPUS STRIATUM; CORRELATION ANALYSIS; FEMALE; FOLLOW UP; FRONTAL LOBE; GENE MUTATION; GENETIC MARKER; GLUCOSE METABOLISM; GLUCOSE TRANSPORT; GRAY MATTER; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; IN VIVO STUDY; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAMETRIC TEST; PRIORITY JOURNAL; RISK ASSESSMENT; TEMPORAL LOBE; WHITE MATTER; ATROPHY; BRAIN; CLINICAL TRIAL; COMPUTER ASSISTED DIAGNOSIS; CONTROLLED CLINICAL TRIAL; DISORDERS OF CARBOHYDRATE METABOLISM; METABOLISM; METHODOLOGY; MIDDLE AGED; MYELINATED NERVE; PATHOLOGY; POSITRON EMISSION TOMOGRAPHY; PROGNOSIS; REPRODUCIBILITY; SCINTISCANNING; SENSITIVITY AND SPECIFICITY;

ADULT; ATROPHY; BRAIN; COHORT STUDIES; FEMALE; FLUORODEOXYGLUCOSE F18; GLUCOSE METABOLISM DISORDERS; HUMANS; HUNTINGTON DISEASE; IMAGE INTERPRETATION, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; POSITRON-EMISSION TOMOGRAPHY; PROGNOSIS; RADIOPHARMACEUTICALS; REPRODUCIBILITY OF RESULTS; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY;

EID: 33747777842     PISSN: 01615505     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. Kremer B, Goldgerg P, Andrew SE, et al. Aworldwide study of the Huntington's disease mutation. N Engl J Med. 1994;330:1401-1406.
2. Paulsen JS, Zhao H, Stout JC, et al. Clinical markers of early disease in persons near onset of Huntington's disease. Neurology. 2001;57:658-662.
3. Rosenblatt A, Abbott MH, Gourley LM, et al. Predictors of neuropathological severity in 100 patients with Huntington's disease. Ann Neurol. 2003;54:488-493.
4. Penney JB Jr, Vonsattel JP, MacDonald ME, et al. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol. 1998;41:689-692.
5. Aylward EH, Sparks BF, Field KM, et al. Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology. 2004;63:66-72.
6. Vonsattel JP, DiFiglia M. Huntington disease. J Neuropathol Exp Neurol. 1998;57:369-384.
7. Thieben MJ, Duggins AJ, Good CD, et al. The distribution of structural neuropathology in pre-clinical Huntington's disease. Brain. 2002;125:1815-1828.
8. 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.
9. Reading SA, Dziorny AC, Peroutka LA, et al. Functional brain changes in presymptomatic Huntington's disease. Ann Neurol. 2004;55:879-883.
10. Hayden MR, Martin WR, Stoessl AJ, et al. Positron emission tomography in the early diagnosis of Huntington's disease. Neurology. 1986;36:88-94.
11. Kuwert T, Lange HW, Langen KJ, et al. Cortical and subcortical glucose consumption measured by PET in patients with Huntington's disease. Brain. 1990;113:1405-1423.
12. Antonini A, Leenders KL, Spiegel R, et al. Striatal glucose metabolism and dopamine D2 receptor binding in asymptomatic gene carriers and patients with Huntington's disease. Brain. 1996;119:2085-2095.
13. Andrews TC, Weeks RA, Turjanski N, et al. Huntington's disease progression: PET and clinical observations. Brain. 1999;122:2353-2363.
14. Sapp E, Kegel KB, Aronin N, et al. Early and progressive accumulation of reactive microglia in the Huntington disease brain. J Neuropathol Exp Neurol. 2001;60:161-172.
15. 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.
16. 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.
17. Alfano B, Brunetti A, Larobina M, et al. Automated segmentation and measurement of global white matter lesion volume in patients with multiple sclerosis. J Magn Reson Imaging. 2000;12:799-807.
18. Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord. 1996;11:136-142.
19. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189-198.
20. Squitieri F, Berardelli A, Nargi E, et al. Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis. Clin Genet. 2000;58:50-56.
21. Shoulson I, Fahn S. Huntington disease: clinical care and evaluation. Neurology. 1979;29:1-3.
22. Squitieri F, Gellera C, Cannella M, et al. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain. 2003;126:946-955.
23. Penney JB, Young AB, Shoulson I, et al. Huntington's disease in Venezuela: 7 years of follow-up on symptomatic and asymptomatic individuals. Mov Disord. 1990;5:93-99.
24. Brinkman RR, Mezei MM, Theilmann J, et al. The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet. 1997;60:1202-1210.
25. Squitieri F, Sabbadini G, Mandich P, et al. Family and molecular data for a fine analysis of age at onset in Huntington disease. Am J Med Genet. 2000;95:366-373.
26. Cannella M, Gellera C, Maglione V, et al. The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet. 2004;125:92-98.
27. Kremer B, Almqvist E, Theilmann J, et al. Sex-dependent mechanisms for expansion and contraction of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet. 1995;57:343-350.
28. International Huntington Association and World Federation of Neurology research group of Huntington's chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology. 1994;44:1533-1566.
29. Benjamin CM, Adam S, Wiggins S, et al. Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet. 1994;55:606-617.
30. Squitieri F, Almqvist EW, Cannella M, et al. Predictive testing for persons at risk for homozygosity for GAG expansion in the Huntington disease gene. Clin Genet. 2003;64:524-525.
31. Alfano B, Brunetti A, Covelli EM, et al. Unsupervised, automated segmentation of the normal brain using multispectral relaxometric magnetic resonance approach. Magn Reson Med. 1997;37:84-93.
32. Alfano B, Quarantelli M, Brunetti A, et al. Reproducibility of intracranial volume measurement by unsupervised multispectral brain segmentation. Magn Reson Med. 1998;39:497-499.
33. Quarantelli M, Berkouk K, Prinster A, et al. Integrated software for the analysis of brain PET/SPECT studies with partial-volume-effect correction. J Nucl Med. 2004;45:192-201.
34. Muller-Gartner HW, Links JM, Prince JL, et al. Measurement of radiotracer concentration in brain gray matter using positron emission tomography: MRI-based correction for partial volume effects. J Cereb Blood Flow Metab. 1992;12:571-583.
35. Rousset OG, Ma Y, Evans AC. Correction for partial volume effects in PET: principle and validation. J Nucl Med. 1998;39:904-911.
36. Talairach Daemon client download. Web site of Research Imaging Center, University of Texas Health Science Center at San Antonio. Available at: http://ric.uthscsa.edu/projects/tdc/. Accessed December 5, 2005.
37. Beal MF. Energetics in the pathogenesis of neurodegenerative diseases. Trends Neurosci. 2000;23:298-304.
38. 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.
39. Panov AV, Gutekunst CA, Leavitt BR, et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci. 2002;5:731-736.
40. Yamamoto A, Lucas JJ, Hen R. Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell. 2000;101:57-66.
41. Kassubek J, Landwehrmeyer BG, Ecker D, et al. Global cerebral atrophy in early stages of Huntington's disease: quantitative MRI study. Neuroreport. 2004;15:363-365.