From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

Annals of Neurology

Volumn 45, Issue 6, 1999, Pages 704-715

  Nasreddine, Ziad S ^a   Loginov, Maxim ^c   Clark, Lorraine N ^d,e   Lamarche, Jacques ^b   Miller, Bruce L ^d   Lamontagne, Albert ^b   Zhukareva, Victoria ^f   Lee, Virginia M Y ^f   Wilhelmsen, Kirk C ^d,e   Geschwind, Daniel H ^c  

^a HÔPITAL CHARLES LEMOYNE   (Canada)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Research Center   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CELL INCLUSION; CHROMOSOME 17Q; CHROMOSOME MUTATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FRONTOTEMPORAL DEMENTIA; GENE LOCUS; GENETIC LINKAGE; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; NERVE DEGENERATION; NIEMANN PICK DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032976201     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199906)45:6<704::AID-ANA4>3.0.CO;2-X     Document Type: Article

References (47)

1. Foster NL, Wilhelmsen K, Sima AAF, Conference Participants. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol 1997;41:706-715
2. 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
3. Groen JJ, Endtz LJ. Hereditary Pick's disease: second reexamination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, and computerized tomography. Brain 1982;105:443-459
4. Petersen RB, Tabaton M, Chen SG, et al. Familial progressive subcortical gliosis: absence of prions and linkage to chromosome 17. Neurology 1995;45:1062-1067
5. Wszolek ZK, Pfeiffer RF, Bhat MH, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallidoponto-nigral degeneration. Ann Neurol 1992;32:312-320
6. Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-1884
7. Mesulam M-M. Slowly progressive aphasia without generalized dementia. Ann Neurol 1982;11:592-598
8. Snowden JS, Neary D, Mann DMA, et al. Progressive language disorder due to lobar atrophy. Ann Neurol 1992;31:174-183
9. Lendon CL, Lynch T, Norton J, et al. Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology 1998;50:1546-1555
10. Miller BL, Chang L, Mena I, et al. Progressive right frontotemporal degeneration: clinical, neuropathological and SPECT characteristics. Dementia 1993;4:204-213
11. Chow TW, Miller BL, Hayashi VN, Geschwind DH. The inheritance of frontotemporal dementia. Arch Neurol (In press)
12. Gustafson L, Brun A, Risberg J. Frontal lobe degeneration of non-Alzheimer type. II. Clinical picture and differential diagnosis. Arch Gerontol Geriatr 1987;6:209-223
13. Sima AAF, Defendini RF, Keohane C, et al. The neuropathology of chromosome 17-linked dementia. Ann Neurol 1996;39: 734-744
14. Wijker M, Wszolek ZK, Wolters ECH, et al. Localisation of the gene for the rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996;5:151-154
15. Gaughran F, Keohane C, Buckley M. Familial dementia with Pick cells: a case report of probable Pick's disease. Ir J Psychol Med 1994;11:34-38
16. Yamada T, McGeer EG, Schelper RL, et al. Histological and biochemical pathology in a family with autosomal dominant parkinsonism and dementia. Neurol Psychiatr Brain Res 1993; 2:26-35
17. Sumi SM, Bird TD, Nochlin D, Raskind MA. Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 1992;42:120-127
18. Spillantini MG, Crowther RA, Goedert M. Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. Acta Neuropathol 1996;92: 42-48
19. 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
20. 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;56:1306-1312
21. Hutton M, Baker M, Houlden H, et al. Genetic analysis of an Australian pedigree with autosomal dominant non-Alzheimer's dementia. Am J Hum Genet 1996;59(Suppl):A221 (Abstract)
22. 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
23. Schenk VWD. Re-examination of a family with Pick's disease. Ann Hum Genet 1959;23:325-333
24. Stevens M, van Swieten JC, vin Duijn CM, et al. Familiaire vormen van frontotemporale dementie [Familial forms of fronto-temporal dementia]. Ned Tijdschr Geneeskd 1995;139: 871-875
25. Lanska DJ, Currier RD, Cohen M, et al. Familial progressive subcortical gliosis. Neurology 1994;44:1633-1643
26. Spillantini MG, Bird TD, Ghetti B, et al. Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 1998;8:387-402
27. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43:815-825
28. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705
29. Clark LN, Poorkaj P, Wszolek Z, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci USA 1998;95:13103-13107
30. Brun A, Englund B, Gustafson L, et al. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 1994;57:416-418
31. Miller BL, Ikonte C, Ponton MP, et al. A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology 1997;48:937-942
32. Lezak MD. Neuropsychological assessment. 3rd ed. New York: Oxford University Press, 1995
33. Spreen O, Strauss E. A compendium of neuropsychological tests: administration, norms, and commentary. New York: Oxford University Press, 1991
34. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446
35. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-247
36. Ott J. Analysis of human genetic linkage. Baltimore: The Johns Hopkins Press, 1992
37. Reed LA, Schmidt ML, Wszolek ZK, et al. The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration"). J Neuropathol Exp Neurol 1998;57:588-601
38. 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
39. Matsuo ES, Shin RW, Billingsley ML, et al. Biopsy derived adult human brain tau is phosphorylated at many of the same sites as Alzheimer's disease paired helical filament tau. Neuron 1994;13:989-1002
40. Hong M, Zhukareva V, Vogelsberg-Ragaglia V, et al. Mutation-specific functional impairments in distinct tau isoforms in hereditary FTDP-17. Science 1998;282:1914-1917
41. Miller BL, Darby AL, Swartz JR, et al. Dietary changes, compulsions and sexual behavior in frontotemporal degeneration. Dementia 1995;6:195-199
42. Geschwind DH, Perlman S, Figueroa CP, et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-850
43. Spillantini MG, Goedert M. Tau protein pathology in neurodegenerative diseases. Trends Neurosci 1998;21:428-433
44. Tissot R, Constantinidis J, Richard J. Pick's disease. In: Fredriks JAM, ed. Handbook of clinical neurology. Revised series 2, vol 46: neurobehavioural disorders. New York: Elsevier Science, 1985:233-246
45. Bird TD, Nochlin D, Poorkaj P, et al. A clinical pathological comparison of three families with fronto-temporal dementia and identical mutations in the tau gene (P301L). Brain 1999 (In press)
46. Takamatsu J, Kondo A, Ikegimi K, et al. Selective expression of Ser 199/202 phosphorylated tau in a case of frontotemporal dementia. Dementia Geriatr Cogn Disord 1998;9:82-89
47. Vermersch P, Bordet R, Ledoze F, et al. Demonstration of a specific profile of pathological tau proteins in frontotemporal dementia cases [in French]. C R Acad Sci III 1995;318: 439-445