Frontotemporal dementia and Parkinsonism linked to chromosome 17: A new group of tauopathies

Brain Pathology

Volumn 8, Issue 2, 1998, Pages 387-402

  Spillantini, Maria Grazia ^a   Bird, Thomas D ^b   Ghetti, Bernardino ^c  

^a ROYAL EDINBURGH HOSPITAL   (United Kingdom)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

ALZHEIMER DISEASE; BRAIN ATROPHY; CHROMOSOME 17; CLINICAL EXAMINATION; CONFERENCE PAPER; DEMENTIA; DIFFERENTIAL DIAGNOSIS; FRONTAL LOBE; GENETIC LINKAGE; GLIOSIS; HUMAN; NERVE CELL NECROSIS; NEUROPATHOLOGY; PARKINSONISM; TEMPORAL LOBE;

EID: 0031949084     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00162.x     Document Type: Conference Paper

References (79)

1. Andreadis A, Brown WM, Kosik KS (1992) Structure and novel exons of the human tau gene. Biochem 31: 10626-33
2. Arriagada PV, Growdon JH, Hedley-White ET, Hyman BT (1992) Neurofibrillary tangles but not senile plaques parallel duration and severity of Alzheimer's disease. Neurology 42: 631-639
3. Baker M, Kwok JBJ, Kucera S, Crook R, Farrer M, Houlden H, Isaacs A, Lincoln S, Onstead L, Hardy J, Wittemberg L, Dodd P, Webb S, Hayward N, Tannenberg T, Andreadis T, Hallupp M, Schofield P, Dark R Hutton M (1997) Localization of frontotemporal dementia with parkinsonism in an australian kindred to chromosome 17q21-22. Ann Neurol 42: 794-798
4. Bancher C, Jellinger KA (1994) Neurofibrillary tangle predominant form of senile dementia of Alzheimer's type: a rare subtype in very old subjects. Acta Neuropathol 88: 565-570
5. Basun H, Almkvist O, Axelman K, Brun A, Campbell TA, Collinge J, Forsell C, Froelich S, Wahlund L-O, Wetterberg L, Lannfelt L (1997) Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia. Arch Neurol 54: 539-544
6. Bird TD, Wijsman EM, Nochlin D, Leehey M, Sumi SM, Payami H, Poorkaj P, Nemens E, Rafkind M, Schellemberg GD (1997) Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology 48: 949-954
7. Braak H, Braak E (1991) Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 82: 239-259
8. Brown J, Lantos P, Stratton M, Roques P, Rossor M (1993) Familial progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 56: 473-476
9. Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy , Coilinge J (1995) Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 4: 1625-1628
10. Brun A, Englund B Gustafson L, Passant U Mann DMA Neary D, Snowden JS, The Lund and Manchester groups (1994) Consensus statement Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 57: 416-418
11. Chin S S-M. Goldman JG (1996) Glial inclusions in CNS degenerative diseases. J Neuropathol Exp Neurol 55: 499-508
12. Cole M, Write D, Banker BQ (1979) Familial aphasia' the Pick-Alzheimer spectrum. Trans Am Neurol Ass 104: 175-179
13. Conrad C, Andreadis A, Trojartowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal L J, Katzman R, Xia Y, Saitoh T (1997) Genetic evidence for the involvement of T in progressive supranuclear palsy. Ann Neurol 41: 277-281
14. Cordes M, Wszolek ZK, Calne DB, Rodnitzky RL, Pfeiffer RF (1992) Magnetic resonance imaging studies in rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Neurodegeneration 1: 217-224
15. Couch FJ, Castilla LH, Xu J, Abel KJ, Welcsh P, King SE, Wong L, Ho PP, Merajver S, Brody LC, Yin G, Hayes ST, Gieser LM, Flejter WL, Glover TW, Friedman LR, Lynch ED, Meza J,E, King M-C, Law DJ, Deaven L, Bowcock AM, Collins FS, Weber BL, Chandrasekharappa SC (1995) A YAC-, P1-, and cosmid based physical map of the BRCA1 region on chromosome 17q21. Genomics 25: 264-273
16. Crowther RA (1991) Straight and paired helical filaments in Alzheimer disease have a common structural unit. Proc Natl Acad Sci USA 88: 2288-2292
17. Dark F (1997) A family with autosomal dominant nonAlzheimer's presenile dementia. Australian and New Zealand J. Psychiatr 31: 139-144
18. de Yébenes JG, Sarasa JL, Daniels SE, Lees AJ (1995) Familial progressive supranuclear palsy Description of a pedigree and review of the literature. Brain 118: 1095-1103
19. Feany MB, Dickson DW (1996) Neurodegenerative disorders with extensive tau pathology: a comparative study and review. Ann Neurol, 40: 139-148
20. Flament S, Delacourte A, Verny M, Hauw, JJ, Javoy-Agid F (1991) Abnormal tau proteins in progressive supranuclear palsy. Similarities and differences with the neurofibrillary degeneration of the Alzheimer type. Acta Neuropathol 81: 591-596
21. Foster NL, Wilhelmsen K, Sima AAF, Jones MZ, D'Amato C, Oilman S, Spillantini MG, Lynch T, Mayeux RP, Gaskell Ph-C, Hulette C, Pencak-Vance M A, Wetsh-Bohmer KA, Dickson DW, Heutink P, Kros J, van Swieten JC, Arwert F, Ghetti B, Murrell J, Lannfelt L, Hutton M, Phelps CH, Snyder DS, Oliver E, Ball MJ, Cummings JL, Miller BL, Katzman R, Reed L, Schelper RL, Lanska DJ, Brun A, Fink JK, Khul DE, Knopman DS, Wszolek Z, Miller CL, Bird TD, Lendon C, Elechi C (1997) Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A Consensus Statement. Ann Neurol 41: 706-715
22. Fnedman LS, Ostermeyer EA, Lynch ED, Welcsh P, Szabo CI, Meza JE, Anderson LA, Dowd P, Lee MK, Rowell SE, Ellison J, Boyd J, King M-C (1995) 22 genes from chromosome 17q21: cloning sequencing and characterization of mutations in brest cancer families and tumors. Genomics 25: 256-263
23. Froetich S, Basun H, Forsell C, Lilius L, Axelman K, Andreadis A, Lannfelt L (1997) Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am J Med Genet 74: 380-385.
24. Giannakopoulos P, Hof PR, Bouras C (1995) Dementia lacking distinctive histopathology: climcopathological evaluation of 32 cases. Acta Neuropathol 89: 346-355
25. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA (1989) Multiple isoforms of human microtubule-associated protein tau: sequence and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3: 519-526
26. Goedert M, Spillantini MG, Potier MC, Ulrich J, Crowther RA (1989) Cloning and sequencing of the cDNA encoding an isoform of microtubule-associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain. EMBOJ 8: 393-399
27. Goedert M, Jakes R (1990) Expression of separate isoforms of human tau: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J 9: 4225-4230
28. Goedert M, Spillantini MG, Cairns NJ, Crowther RA (1992) Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 8: 159-168
29. Goedert M, Jakes R, Spillantini MG, Hasegawa M, Smith MJ, Crowther RA (1996) Sulphated glycosaminoglycans induce assembly of microtubule-associated protein tau into Alzheimer-like filaments. Nature 383: 550-553
30. Greenberg SG, Davies P (1990) A preparation of Alzheimer paired helical filaments that display distinct tau proteins by polyacrylamide gel electrophoresis. Proc Natl Acad Sci USA 87: 5827-5831
31. Greenberg SG, Davies P, Schein JD, Binder LI (1992) Hydrofluoric acid-treated tau PHF proteins display the same biochemical properties as normal tau. J Biol Chem 267: 564-569
32. Greenstem PE, Moore D, Levy-Lahad E, Stephens K, Bird TD (1996) Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia. Neurology 47: 1106-1107
33. Groen JJ, Endtz LJ (1982) Hereditary Pick's disease: second re-examination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, a computerized tomography. Brain 105: 443-449
34. Gustafson L (1993) Clinical picture of frontal lobe degeneration of non-Aizheirner type. Dementia 4: 143-148
35. Haass C (1997) Presenilins: genes for life and death. Neuron 18: 687-690
36. Heutink P, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC (1997) Hereditary frontotemporal dementia is linked to chromosome 17q21-22- a genetic and clinicopathological study of three Dutch families. Ann Neurol 41: 150-159
37. Jackson M, Lowe J (1996) The new neuropathology of degenerative frontotemporal dementias. Acta Neuropathol 91: 127-134
38. Kamb A, Futreal PA, Rosenthal J, Cochran C, Harshman KD, Liu Q, Phelps RS, Tautigian SV, Tran T, Hussey C, Bell R, Miki Y, Swensen J, Hobbs MR, Marks J, Bennett LM, Barrett JC, Wiseman RW, Shattuck-Eidens D (1994) Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1. Genomics 23: 163-167
39. Kim RC, Collins GH, Parisi JE, Wright AW, Chu YB (1981) Familial dementia of adult onset with pathological findings of "non-specific" nature. Brain 104: 61-78
40. Knopman DS, Mastri AR, Frey WH, Sung JH, Rustan T (1990) Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 40: 251-256
41. Ksiezak-Redmg H, Morgan K, Mattiace LA, Davies P, Kiu W-K, Yen S-H, Weidenheim K, Dickson DW (1994) Ultrastructure and biochemical composition of paired helical filaments in corticobasal degeneration. Am J Pathol 145: 1-13
42. Lanska DJ, Currier RD, Cohen M, Gambetti P, Smith EE, Bebin J, Jackson JF (1994) Whitehouse PJ, Markesbery WR : Familial progressive subcortical gliosis. Neurology 44: 1633-1643
43. Lendon CL, Shears S, Busfield F, Talbot CJ, Renner J, Morris JC, Goate AM (1994) Molecular genetics of hereditary dysphasic dementia. Neurobiol Aging 15 (Suppl): S128
44. Lee VM-Y, Balin BJ, Otvos L, Trojanowski JQ (1991) A68 a major subunit of paired helical filaments and derivatized forms of normal tau. Science 251: 675-678
45. Lynch T, Sano M, Marder KS (1994) Clinical characteristics of a family with chromosome 17-linked Dishinibition-Dementia-Parkinsonism-Amyotrophy Complex (DDPAC). Neurology 44: 1878-1884
46. Mann DMA, South PW, Snowden JS, Neary D (1993) Dementia of frontal lobe type: neuropathology and immunohistochemistry. J Neurol Neurosurg Psychiatr 56: 605-614
47. Mazoyer S, Gayther SA, Nagai MA, Smith SA, Dunning A, van Rensburg EJ, Albertsen H, White R, Ponder BAJ (1995) A gene (DLG2) located at 17q12-21 encodes a new homologue of the Drosophila tumor suppressor dig-A. Genomics 28: 25-31
48. Miller BL, Cummings JL, Villanueva MJ, Boone K, Mehringer CM, Lesser IM, Mena I (1991) Frontal lobe degeneration: clinical, neuropsychological, and SPECT characteristics. Neurology 41: 1374-1382
49. Molloy F, Lynch T, Farrell (1995) Fronto-temporal dementia with Pick-like bodies in an Insh-American family - neuropathological findings. J Neuropathol Exp Neurol 54: 444-445
50. Morris JC, Cole M, Banker BQ, Wright D (1984) Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. Ann Neurol 16: 455-466
51. Mulot SFC, Hughes K, Woodgett JR, Anderton BH, Hanger DP (1994) PHF-tau from Alzheimer's brain comprises four species on SDS-PAGE which can be mimicked by in vitro phosphorylation of human brain tau by glycogen synthase kinase 3β. FEBS Lett 349: 359-364
52. Murrell J, Koller D, Foroud T, Goedert M, Spillantini MG, Edenberg H, Fariow M, Ghetti B (1997) Familial multiple system tauopathy with presenile dementia localized to chromosome 17. Am J Hum Gen 61: 1131-1138
53. Neve RL, Harris P, Kosik KS, Kurnit DM, Donlon TA (1986) Identification of cDNA clones for the human microtubule associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2. Mol Brain Res 1: 271-280
54. Nishimura T, Ikeda H, Akiyama H, Arai T, Kondo H, Okochi M, Furiya Y, Mori H, Oda T, Kato M, Iseki E (1997) Glial tau-positive structures lack the sequence encoded by exon 3 of the tau protein gene. Neurosci Lett 224: 169-172
55. Passant U, Gustafson L, Brun A, Spectrum of frontal lobe dementia in a Swedish family. Dementia 4: 160-162
56. Petersen RB, Tabaton M, Chen SG, Monan L, Richardson SL, Lynches T, Manetto V, Lanska DJ, Markesbery WR, Currier RD, Autilio-Gambetti L, Wilhelmsen KC, Gambetti P (1995) Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology 45: 1062-1067
57. Prusiner SB (1997) Prion diseases and the BSE crisis. Science 278: 245-251
58. Reed LA, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ (1997) Autosomal dominant dementia with widespread neurofibrillary tangles. Ann Neurol 42: 564-572
59. Schaumburg HH, Suzuki K (1968) Non-specific familial presenile dementia. J Neurol Neurosurg Psychiatry 31: 479-486
60. Schenk V W D (1959) Re-examination of a family with Pick's disease. Ann Hum Genet 23: 325-333
61. Schmidt ML, Huang R, Martin JA, Henley J, Mawal-Dewan M, Hurtig HI, Lee VM-Y, Trojanowski J Q (1996) Neurofibrillary tangles in progressive supranuclear palsy contain the same tau epitopes identified in Alzheimer's disease PHFtau. J Neuropathol Exp Neurol 55: 534-539
62. Sima AAF, Defendini R, Keohane C, D'Amato C, Foster NL, Parchi P, Gambetti M, Lynch T, Wilhelmsen KC (1996) The neuropathology of chromosome 17-linked dementia. Ann Neurol 39: 734-743
63. Spillantini MG, Crowther AR, Goedert M (1996) Comparative study of the neurofibrillary pathology of Alzheimer's disease and familial presenile dementia with only tangles. Acta Neuropathol 92: 42-48
64. Spillantini MG, Goedert M, Crowther RA, Murrell J, Farlow, MJ, Ghetti B (1997) Familial multiple system tauopathy: a new neurodegenerative disease of the brain with tau neurofibrillary pathology. Proc Natl Acad Sci USA 94: 4113-4118
65. Spillantini MG, Goedert M, Crowther RA, Murreil JR, Farlow MJ, Ghetti B (1997) Characterization of tau pathology in familial multiple system tauopathy with presenile dementia In: Alzheimer's disease: biology, diagnosis and therapeutics, eds Iqbal K, Winblad B, Nishimura T, Takeda M & Wisniewsky H, John Wiley & Sons Ltd, 213-223
66. Spillantini MG, Roses AD, Yamaoka LH, Gaskell PC, Welsh-Bohmer KA, Pencak-Vance MA, Hulette CM (1997) Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684. Brain Pathol 7: 1149
67. Sumi SM, Bird TD, Nochlin D, Raskind MA (1992) Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 42: 120-127
68. Tanzi R, Kovacs D, Kim T-W, Moir R, Gevenette S, Wasco W (1996) The gene defects responsible for familial Alzheimer's disease. Neurobiol Dis 3: 159-168
69. Tracz E, Dickson DW, Hainfeld JF, Ksiezak-Reding H (1997) Paired helical filaments in corticobasal degeneration: the fine fibrillary structure with Nano Van. Brain Res 773: 33-44
70. Ulrich J, Spillantini MG, Goedert M, Dukas L, Stáhelin HB (1992) Abundant neurofibrillary tangles without senile plaques in a subset of patients with senile dementia. Neurodegeneration 1: 257-264
71. Vermersch P, Bordet R, Ledoze F, Ruchoux MM, Chapon F, Thomas P, Destée A, Lechevallier B (1995) Demonstration of a specific profile of pathological tau proteins in frontotemporal dementia cases. CR Acad Sci 318: 439-445
72. Wijker M, Wszolek ZK, Wolters ECH, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F (1996) Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mot Genet 5: 151-154
73. Wilhelmsen KC (1997) Frontotemporal dementia is on the MAP T. Ann Neurol 41: 139-140
74. Wilhelmsen KC, Lynch T, Pavlov E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55: 1159-1165
75. Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wolter SEC, Arwert F, Calne DB (1992) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32: 312-320
76. Wszolek ZK, Lynch T, Wilhelmsen KC (1997) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) and disinhibition-dementia-parkmsonism-amyotrophy complex (DDPAC) are clinically distinct conditions that are both linked to 17q21 -22. Parkinsonism & Related Disorders 3: 67-76
77. Yamada T, McGeer EG, Schelper RL, Wszolek ZK, McGeer PL, Pfeiffer RF, Rodnitzky RL (1993) Histological and biochemical pathology in a family with autosomal dominant parkinsonism and dementia. Neural Psychtatr Brain Res 2: 26-35
78. Yamaoka LH, Welsh-Bohmer KA, Hulette CM, Gaskell P C, Murray M, Rimmler JL, Helms BR, Guerra M, Roses AD, Schmechel DE, Pericak-Vance MA (1996) Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am J Hum Genet 59: 1306-1312
79. Zheng Y, Jung MK, Oakley BR (1991) γ-tubulin is present in Drosophila melanogaster and Homo sapiens and is associated with the centrosome. Cell 65: 817-823