Familial frontotemporal dementia: A report of three cases of severe cerebral atrophy with rare inclusions that are negative for tau and synuclein, but positive for ubiquitin

Acta Neuropathologica

Volumn 108, Issue 1, 2004, Pages 10-16

  Chang, Howard T ^a   Cortez, Selina ^d   Vonsattel, Jean Paul ^c   Stopa, Edward G ^b   Schelper, Robert L ^a  

^a State University of New York Upstate Medical University: College of Medicine   (United States)

^b RHODE ISLAND HOSPITAL   (United States)

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

^d Our Lady of Fatima Hospital   (United States)

Author keywords

Dementia lacking distinctive histological features; Frontotemporal dementia; Pick's disease

Indexed keywords

SYNUCLEIN; TAU PROTEIN; UBIQUITIN;

ADULT; AGED; ARTICLE; AUTOPSY; BRAIN ATROPHY; BRAIN SLICE; CASE REPORT; CELL INCLUSION; CELL LOSS; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FRONTOTEMPORAL DEMENTIA; GLIOSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NEURON DISEASE; NERVE CELL; PARIETAL LOBE; PRIORITY JOURNAL; SIBLING; SUBSTANTIA NIGRA; WESTERN BLOTTING;

AGED; DEMENTIA; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; POSTMORTEM CHANGES; RNA; SYNUCLEINS; TAU PROTEINS; UBIQUITIN;

EID: 3242689830     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0836-0     Document Type: Article

References (26)

1. Adamec E, Chang HT, Stopa EG, Hedreen JC, Vonsattel JP (2001) Tau protein expression in frontotemporal dementias. Neurosci Lett 315:21-24
2. Binetti G, Growdon JH, Vonsattel JPG (1988) Pick's disease. In: Growdon JH, Rossor MN (eds) The Dementias. Butterworth-Heinemannn, Newton, pp 7-44
3. Brun A, Englund E, Gustafson L, Passant U, Mann DMA, Neary D, Snowden JS (1994) Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 57:416-418
4. Constantinidis J, Richard J, Tissot R (1974) Pick's disease: histological and clinical correlation. Eur Neurol 11:208-217
5. Dickson DW (2001) Neuropathology of Pick's disease. Neurology 56: S16-S20
6. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, Gilman S (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol 41:706-715
7. Giannakopoulos P, Hof PR, Bouras C (1995) Dementia lacking distinctive histopathology: clinicopathological evaluation of 32 cases. Acta Neuropathol 89:346-355
8. Goedert M, Spillantini MG, Crowther RA, Chen SG, Parchi P, Tabaton M, Lanska DJ, Markesbery WR, Wilhelmsen KC, Dickson DW, Petersen RB, Gambetti P (1999) Tau gene mutation in familial progressive subcortical gliosis. Nat Med 5: 454-457
9. Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, Spillantini MG, Fisher EM, Collinge J, Sorensen SA (2002) Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology 59:1585-1594
10. Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH Jr (2000) Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 284:1664-1669
11. Ikeda K, Akiyama H, Arai T, Ueno H, Tsuchiya K, Kosaka K (2002) Morphometrical reappraisal of motor neuron system of Pick's disease and amyotrophic lateral sclerosis with dementia. Acta Neuropathol 104:21-28
12. Ingram EM, Spillantini MG (2002) Tau gene mutations: dissecting the pathogenesis of FTDP-17. Trends Mol Med 8:555-562
13. Kertesz A (2003) Pick's complex and FTDP-17. Mov Disord 18 (Suppl 6): S57-S62
14. Knopman DS, Mastri AR, Frey WH 2nd, Sung JH, Rustan T (1990) Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurology 40:251-256
15. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE (2001) Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab 74:458-475
16. Kovari E, Leuba G, Savioz A, Saini K, Anastasiu R, Miklossy J, Bouras C (2000) Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease. Acta Neuropathol 100:421-426
17. Mann DM (1998) Dementia of frontal type and dementias with subcortical gliosis. Brain Pathol 8:325-338
18. Mann DM, South PW, Snowden JS, Neary D (1993) Dementia of frontal lobe type: neuropathology and immunohistochemistry. J Neurol Neurosurg Psychiatry 56:605-614
19. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ (2001) Clinical and pathological diagnosis of frontotemporal dementia: report of the work group on frontotemporal dementia and Pick's disease. Arch Neurol 58: 1803-1809
20. Mitsuyama Y (2000) Dementia with motor neuron disease. Neuropathology 20 Suppl:S79-S81
21. Poduslo SE, Yin X, Hargis J, Brumback RA, Mastrianni JA, Schwankhaus J (1999) A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers. Hum Genet 105:32-37
22. Spillantini MG, Bird TD, Ghetti B (1998) Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 8:387-402
23. Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE (2002) Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet 108:187-191
24. Woulfe J, Kertesz A, Munoz DG (2001) Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions. Acta Neuropathol 102:94-102
25. Yaguchi M, Okamoto K, Nakazato Y (2003) Frontotemporal dementia with cerebral intraneuronal ubiquitin-positive inclusions but lacking lower motor neuron involvement. Acta Neuropathol 105:81-85
26. Yancopoulou D, Crowther RA, Chakrabarti L, Gydesen S, Brown JM, Spillantini MG (2003) Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). J Neuropathol Exp Neurol 62:878-882