Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia

Annals of Neurology

Volumn 46, Issue 2, 1999, Pages 243-248

  Houlden, H ^a,f   Baker, M ^a   Adamson, J ^a   Grover, A ^a   Waring, S ^b   Dickson, D ^a   Lynch, T ^c   Boeve, B ^b   Petersen, R C ^b   Pickering Brown, S ^d   Owen, F ^d   Neary, D ^e   Craufurd, D ^e   Snowden, J ^e   Mann, D ^d   Hutton, M ^a  

^a MAYO CLINIC   (United States)

^b MAYO CLINIC   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e ST MARY S HOSPITAL   (United Kingdom)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TAU PROTEIN;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 17; CONTROLLED STUDY; DEMENTIA; FAMILIAL DISEASE; FRONTOTEMPORAL DEMENTIA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; PARKINSONISM; PRIORITY JOURNAL; UNITED KINGDOM; UNITED STATES;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; DEMENTIA; HUMANS; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TAU PROTEINS;

EID: 0032837303     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199908)46:2<243::AID-ANA14>3.0.CO;2-L     Document Type: Article

References (32)

1. Neary D, Snowden J. Fronto-temporal dementia: nosology, neuropsychology, and neuropathology. Brain Cogn 1996;31: 176-187
2. Lowe J. Establishing a pathological diagnosis in degenerative dementias. Brain Pathol 1998;8:403-406
3. The Lund and Manchester groups. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994;57:416-418
4. Hachinski V. Frontotemporal degeneration, Pick disease, and corticobasal degeneration: three entities or one? Arch Neurol 1997;54:1429
5. Foster NL, Wilhelmsen K, Sima AA, and Conference Participants. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus statement. Ann Neurol 1997;41: 706-715
6. Bird TD. Genotypes, phenotypes, and frontotemporal dementia: take your pick. Neurology 1998;50:1526-1527
7. Constantinidis J, Richard J, Tissot R. Pick's disease: histological and clinical classification. Eur Neurol 1974;11:208-217
8. Wilhelmsen KC, Lynch T, Pavlou E, et al. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165
9. Baker M, Kwok JB, Kucera S, et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann Neurol 1997;42:794-798
10. Froelich S, Basun H, Forsell C, et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet 1997;74:380-385
11. Murrell JR, Koller D, Foroud T, et al. Familial multiple system tauopathy with presenile dementia localized to chromosome 17. Am J Hum Genet 1997;61:1131-1138
12. Wijker M, Wszolek ZK, Wolters EC, et al. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996;5:151-154
13. Heutink P, Stevens M, Rizzu P, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-22: a genetic and clinico-pathological study of three Dutch families. Ann Neurol 1997;41:150-159
14. Yamaoka LH, Welsh-Bohmer KA, Hulette CM, et al. Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am J Hum Genet 1996;59:1306-1312
15. Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 1998;8:387-402
16. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43:815-825
17. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5́-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705
18. Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998;95:7737-7741
19. Clark LN, Poorkaj P, Wszolek Z, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degenerá tion and related neurodegenerative disorders linked to chromó some 17. Proc Natl Acad Sci USA 1998;95:13103-13107
20. Dumanchin C, Camuzat A, Campion D, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 1998;7:1825-1829
21. Hardy J, Duff K, Gwinn-Hardy K, et al. Genetic dissection of Alzheimer's disease and related dementias amyloid and the importance of tau. Nat Neurosci 1998;1:355-358
22. Spillantini MG, Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurosci 1998;21:428-433
23. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992;31:10626-10633
24. Crook R, Hardy J, Duff K. Single-day apolipoprotein E genotyping. J Neurosci Methods 1994;53:125-127
25. Klatka LA, Schiffer RB, Powers JM, Kazee AM. Incorrect diagnosis of Alzheimer's disease: a clinicopathologic study. Arch Neurol 1997;53:35-42
26. Heston LL. The clinical genetics of Pick's disease. Acta Psychiatr Scand 1978;57:202-206
27. Goedert M. Tau protein and the neurofibrillary pathology of Alzheimer's disease. Trends Neurosci 1993;16:460-465
28. Rizzu P, Van Swieten JC, Joosse M, et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in The Netherlands. Am J Hum Genet 1999;64:414-421
29. Sergeant N, David JP, Lefranc D, et al. Different distribution of phosphorylated tau protein isoforms in Alzheimer's and Pick's diseases. FEBS Lett 1997;412:578-582
30. Spillantini MG, Crowther RA, Kamphorst W, et al. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 1998;153: 1359-1363
31. Reed LA, Grabowski TJ, Schmidt ML, et al. Autosomal dominant dementia with widespread neurofibrillary tangles. Ann Neurol 1997;42:564-572
32. D'Souza I, Poorkaj P, Hong M, et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci USA 1999;96:598-603.