H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers

European Journal of Human Genetics

Volumn 17, Issue 3, 2009, Pages 287-294

  Canu, Elisa ^a   Boccardi, Marina ^a   Ghidoni, Roberta ^a   Benussi, Luisa ^a   Testa, Cristina ^a,b   Pievani, Michela ^a   Bonetti, Matteo ^c   Binetti, Giuliano ^a   Frisoni, Giovanni B ^a  

^a IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^b UNIVERSITY OF UDINE   (Italy)

^c Istituto Clinico Citta di Brescia   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

ADULT; ARTICLE; BRAIN SIZE; CAUDATE NUCLEUS; COGNITION; CONTROLLED STUDY; DEMOGRAPHY; FEMALE; FRONTAL CORTEX; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GRAY MATTER; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INSULA; MALE; MORPHOMETRICS; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBITAL CORTEX; PRIORITY JOURNAL; TAUOPATHY; TEMPORAL LOBE; THREE DIMENSIONAL IMAGING;

BRAIN; DIFFUSION MAGNETIC RESONANCE IMAGING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NEURODEGENERATIVE DISEASES; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS;

EID: 60749132779     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.185     Document Type: Article

References (57)

1. Shahani N, Brandt R: Functions and malfunctions of the tau proteins. Cell Mol Life Sci 2002; 59: 1668-1680; review.
2. Spillantini MG, Goedert M: Tau protein pathology in neurodegenerative diseases. Trends Neurosci 1998; 21: 428-433; review.
3. Lee VM, Goedert M, Trojanowski JQ: Neurodegenerative tauopathies. Annu Rev Neurosci 2001; 24: 1121-1159; review.
4. Baker M, Litvan I, Houlden H et al: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999; 8: 711-715.
5. Kwok JB, Teber ET, Loy C et al: Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann Neurol 2004; 55: 329-334.
6. Rademakers R, Melquist S, Cruts M et al: High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005; 14: 3281-3292.
7. Verpillat P, Camuzat A, Hannequin D et al: Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol 2002; 59: 935-939.
8. Hughes A, Mann D, Pickering-Brown S: Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Exp Neurol 2003; 181: 12-16.
9. Di Maria E, Tabaton M, Vigo T et al: Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 2000; 47: 374-377.
10. Houlden H, Baker M, Morris HR et al: Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 2001; 56: 1702-1706.
11. Sakai K, Piao YS, Kikugawa K et al: Corticobasal degeneration with focal, massive tau accumulation in the subcortical white matter astrocytes. Acta Neuropathol (Berl) 2006; 112: 341-348.
12. de Silva R, Weiler M, Morris HR, Martin ER, Wood NW, Lees AJ: Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. Neurosci Lett 2001; 311: 145-148.
13. Liu WK, Le TV, Adamson J et al: Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy. Ann Neurol 2001; 50: 494-502.
14. Pastor P, Ezquerra M, Tolosa E et al: Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov Disord 2002; 17: 550-556.
15. Higgins JJ, Golbe LI, De Biase A, Jankovic J, Factor SA, Adler RL: An extended 5′-tau susceptibility haplotype in progressive supranuclear palsy. Neurology 2000; 55: 1364-1367.
16. Papapetropoulos S, Scaravilli T, Morris H et al: Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology. Neurology 2005; 64: 731-733.
17. Pittman AM, Myers AJ, Duckworth J et al: The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum Mol Genet 2004; 13: 1267-1274.
18. Martin ER, Scott WK, Nance MA et al: Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 2001; 286: 2245-2250.
19. Pastor P, Ezquerra M, Munoz E et al: Significant association between the tau gene A0/A0 genotype and Parkinson's disease. Ann Neurol 2000; 47: 242-245.
20. Ghidoni R, Signorini S, Barbiero L et al: The H2 MAPT haplotype is associated with familial frontotemporal dementia. Neurobiol Dis 2006; 22: 357-362.
21. Sobrido MJ, Miller BL, Havlioglu N et al: Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Arch Neurol 2003; 60: 698-702.
22. Baba Y, Tsuboi Y, Baker MC et al: The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord 2005; 11: 205-208.
23. Borroni B, Yancopoulou D, Tsutsui M et al: Association between tau H2 haplotype and age at onset in frontotemporal dementia. Arch Neurol 2005; 62: 1419-1422.
24. Laws SM, Perneczky R, Drzezga A et al: Association of the tau haplotype h2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia. Am J Psychiatry 2007; 164: 1577-1584.
25. Riello R, Sabattoli F, Beltramello A et al: Brain volumes in healthy adults aged 40 years and over: A voxel-based morphometry study. Aging Clin Exp Res 2005; 17: 329-336.
26. Hixson JE, Vernier DT: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 1990; 31: 545-548.
27. Ashburner J, Csernansky JG, Davatzikos C, Fox NC, Frisoni GB, Thompson PM: Computer-assisted imaging to assess brain structure in healthy and diseased brains. Lancet Neurol 2003; 2: 79-88.
28. Friston KJ, Glaser DE, Henson RN, Kiebel S, Phillips C, Ashburner J: Classical and Bayesian inference in neuroimaging: Applications. Neuroimage 2002; 16: 484-512.
29. Ashburner J, Neelin P, Collins DL, Evans AC, Friston KJ: Incorporating prior knowledge into image registration. Neuroimage 1997; 6: 344-352.
30. Evans AC, Kamber M, Collins DL, Macdonald D: An MR-based probabilistic atlas of neuroanatomy; in Shorvon S, Fish D, Andermann F, Bydder GM, Stefan H (eds): Magnetic Resonance Scanning and Epilepsy. New York, 1993, pp 263-274.
31. Good CD, Scahill RI, Fox NC et al: Automatic differentiation of anatomical patterns in the human brain: Validation with studies of degenerative dementias. Neuroimage 2002; 17: 29-46.
32. Talairach J, Tournoux P: Co-Planar Stereotaxic Atlas of the Human Brain: 3-Dimensional Proportional System - An Approach to Cerebral Imaging. New York: Thieme Medical Publishers, 1988.
33. Rosen HJ, Gorno-Tempini ML, Goldman WP et al: Patterns of brain atrophy in frontotemporal dementia and semantic dementia. Neurology 2002; 58: 198-208.
34. Boccardi M, Sabattoli F, Laakso MP et al: Frontotemporal dementia as a neural system disease. Neurobiol Aging 2005; 26: 37-44.
35. Ishii K: Clinical application of positron emission tomography for diagnosis of dementia. Ann Nucl Med 2002; 16: 515-525; review.
36. Filley CM, Kleinschmidt-DeMasters BK, Gross KF: Non-Alzeimer fronto-temporal degenerative dementia. A neurobehavioral and pathologic study. Clin Neuropathol 1994; 13: 109-116.
37. Grossman M, McMillan C, Moore P et al: What's in a name: voxel-based morphometric analyses of MRI and naming difficulty in Alzheimer's disease, frontotemporal dementia and corticobasal degeneration. Brain 2004; 127: 628-649.
38. Ishii K, Sakamoto S, Sasaki M et al: Cerebral glucose metabolism in patients with frontotemporal dementia. J Nucl Med 1998; 39 1875-1878.
39. Cordato NJ, Halliday GM, Harding AJ, Hely MA, Morris JG: Regional brain atrophy in progressive supranuclear palsy and Lewy body disease. Ann Neurol 2000; 47: 718-728.
40. Cordato NJ, Pantelis C, Halliday GM et al: Frontal atrophy correlates with behavioural changes in progressive supranuclear palsy. Brain 2002; 125: 789-800.
41. Li F, Iseki E, Kosaka K, Nishimura T, Akiyama H, Kato M: Progressive supranuclear palsy with fronto-temporal atrophy and various tau-positive abnormal structures. Clin Neuropathol 1996; 15: 319-323.
42. Schulz JB, Skalej M, Wedekind D et al: Magnetic resonance imaging-based volumetry differentiates idiopathic Parkinson's syndrome from multiple system atrophy and progressive supranuclear palsy. Ann Neurol 1999; 45: 65-74.
43. Mann DM, Oliver R, Snowden JS: The topographic distribution of brain atrophy in Huntington's disease and progressive supranuclear palsy. Acta Neuropathol 1993; 85: 553-559.
44. Soliveri P, Monza D, Paridi D et al: Cognitive and magnetic resonance imaging aspects of corticobasal degeneration and progressive supranuclear palsy. Neurology 1999; 53: 502-507.
45. Probst A, Luginbuhl M, Langui D, Ulrich J, Landwehrmeyer B: Pathology of the striatum in progressive supranuclear palsy: Abnormal Tau proteins in astrocytes and cholinergic interneurons. Neurodegeneration 1993; 2: 183-193.
46. Padovani A, Borroni B, Brambati SM et al: Diffusion tensor imaging and voxel based morphometry study in early progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 2006; 77: 457-463.
47. Blin J, Baron JC, Dubois B et al: Positron emission tomography study in progressive supranuclear palsy. Brain hypometabolic pattern and clinicometabolic correlations. Arch Neurol 1990; 47: 747-752.
48. Hosaka K, Ishii K, Sakamoto S et al: Voxel-based comparison of regional cerebral glucose metabolism between PSP and corticobasal degeneration. J Neurol Sci 2002; 199: 67-71.
49. Tsuchiya K, Miyazaki H, Ikeda K et al: Serial brain CT in corticobasal degeneration: Radiological and pathological correlation of two autopsy cases. J Neurol Sci 1997; 152: 23-29.
50. Eidelberg D, Dhawan V, Moeller JR et al: The metabolic landscape of cortico-basal ganglionic degeneration: Regional asymmetries studied with positron emission tomography. J Neurol Neurosurg Psychiatry 1991; 54: 856-862.
51. Blin J, Vidailhet MJ, Pillon B, Dubois B, Feve JR, Agid Y: Corticobasal degeneration: Decreased and asymmetrical glucose consumption as studied with PET. Mov Disord 1992; 7: 348-354.
52. Nagahama Y, Fukuyama H, Turjanski N et al: Cerebral glucose metabolism in corticobasal degeneration: Comparison with progressive supranuclear palsy and normal controls. Mov Disord 1997; 12: 6916-96.
53. Hayesmoore JB, Bray NJ, Cross WC, Owen MJ, O'Donovan MC, Morris HR: The effect of age and the H1c MAPT haplotype on MAPT expression in human brain. Neurobiol Aging 2008; [e-pub ahead of print].
54. Goedert M, Spillantini MG: Tau mutations in frontotemperal dementia FTDP-17 and their relevance for Alzheimer's disease. Biochemica at Biophysica Acta 2000; 1502: 110-121.
55. Caffrey TM, Joachim C, Paracchini S, Esiri MM, Wade-Martins R: Haplotype-specific expression of exon 10 at the human MAPT locus. Hum Mol Genet 2006; 15: 3529-3537.
56. Johansson A, Zetterberg H, Hakansson A, Nissbrandt H, Blennow K: TAU haplotype and the Saitohin Q7R gene polymorphism do not influence CSF Tau in Alzheimer's disease and are not associated with frontotemporal dementia or Parkinson's disease. Neurodegener Dis 2005; 2: 28-35.
57. Laws SM, Friedrich P, Diehl-Schmid J et al: Genetic analysis of MAPT haplotype diversity in frontotemporal dementia. Neurobiol Aging 2008; 29: 1276-1278.