Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: Additional evidence for overlap between FTD and ALS

Neuropathology and Applied Neurobiology

Volumn 29, Issue 3, 2003, Pages 239-253

  Bigio, Eileen H ^a   Lipton, A M ^b   White III, C L ^b   Dickson, D W ^c   Hirano, A ^d  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c MAYO CLINIC   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Amyotrophic lateral sclerosis; Frontotemporal dementia; Hyaline conglomerate inclusions; Motor neurone disease; Neurofilament; Pick disease; Ribosomes

Indexed keywords

ANTIDEPRESSANT AGENT;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN ATROPHY; CASE REPORT; CELL INCLUSION; DEGENERATIVE DISEASE; DEMENTIA; DEPRESSION; FRONTOTEMPORAL DEMENTIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NEURON DISEASE; NEUROFILAMENT; NEUROLOGIC DISEASE; NEUROPATHOLOGY; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RIBOSOME;

AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; DEMENTIA; DIAGNOSIS, DIFFERENTIAL; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOTOR NEURONS; NERVE DEGENERATION; NEUROFILAMENT PROTEINS; PICK DISEASE OF THE BRAIN;

EID: 0038509194     PISSN: 03051846     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2990.2003.00466.x     Document Type: Article

References (75)

1. Aizawa H, Kimura T, Hashimoto K, Yahara O, Okamoto K, Kikuchi K, Basophilic cytoplasmic inclusions in a case of sporadic juvenile amyotrophic lateral sclerosis. J Neurol Sci 2000; 176: 109-13
2. Alzheimer A. Über eigenartige Krankehitsfälledes späteren Alters. Z Neurol Psychiatr 1911; 4: 356-85
3. Arima K, Ogawa M, Sunohara N, Nishio T, Shimomura Y, Hirai S, Eto K. Immunohistochemical and ultrastructural characterization of ubiquitinated eosinophilic fibrillary neuronal inclusions in sporadic amyotrophic lateral sclerosis. Acta Neuropathol 1998; 96: 75-85
4. Bigio EH, Grujic ZM, Hogg M, Demirci S, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, Berry RW, Binder LI, Hutton M. L266V tau mutation produces a tauopathy clinically and pathologically analogous to sporadic Pick disease. J Neuropathol Exp Neurol 2002: 61: 484
5. Bugiani O, Murrell JR, Giaccone G, Hasegawa M, Ghigo G, Tabaton M, Morbin M, Primavera A, Carella F, Solaro C, Grisoli M, Savoiardo M, Spillantini MG, Tagliavini F, Goedert M, Ghetti B. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999; 58: 667-77
6. Cairns NJ, Perry R, Jaros E, Lowe J, Skellerud K, Duyckaerts C, Cruz-Sanchez F, Lantos P. A new dementia: neurofilament inclusion body dementia. J Neuropathol Exp Neurol 2002; 61: 451
7. Chan SY, Worth R, Ochs S. Block of axoplasmic transport in vitro by vinca alkaloids. J Neurobiol 1980; 11: 251-64
8. Chou SM. Pathognomy of intraneuronal inclusions in ALS. In Amyotrophic Lateral Sclerosis. Eds T Tsubaki, Y Toyokura. Tokyo: University of Tokyo Press, 1979: 135-76
9. Chou SM, Wang HS, Komai K. Colocalization of NOS and SOD1 in neurofilament accumulation within motor neurons of amyotrophic lateral sclerosis: an immunohistochemical study. J Chem Neuroanat 1996; 10: 249-58
10. Chou SM, Wang HS, Taniguchi A. Role of SOD-1 and nitric oxide/cyclic GMP cascade on neurofilament aggregation in ALS/MND. J Neurol Sci 1996; 139: 16-26
11. Cooper PN, Jackson M, Lennox G, Lowe J, Mann DMA. τ, ubiquitin, and αB-Crystallin immunohistochemistry define the principal causes of degenerative frontotemporal dementia. Arch Neurol 1995; 52: 1011-5
12. Constantinidis J, Richard J, Tissot R. Pick's disease. Histological and clinical correlations. Eur Neurol 1974; 11: 208-17
13. Delacourte A, Robitaille Y, Sergeant N, Buée L, Hof PR, Wattez A, Laroche-Cholette A, Mathieu J, Chagnon P, Gauvreau D. Specific pathological tau protein variants characterize Pick's disease. J Neuropathol Exp Neurol 1996; 55: 159-68
14. Dickson DW. Neuropathology of Pick's disease. Neurology 2001: 56 (Suppl. 4): S16-20
15. Dickson DW. Pick's disease; a modern approach. Brain Pathol 1998; 8: 339-54
16. Edwards-Lee T, Miller BL, Benson DF, Cummings JL, Russell GL, Boone K, Mena I. The temporal variant of frontotemporal dementia. Brain 1997; 120: 1027-40
17. Ghetti B, Murrell J, Spillantini MG. Mutations in the Tau gene cause frontotemporal dementia. Brain Res Bull 1999; 50: 471-2
18. Goedert M, Crowther RA, Spillantini MG. Tau mutations cause frontotemporal dementias. Neuron 1998; 21: 955-8
19. Grimes DA, Lang AE, Bergeron CB. Dementia as the most common presentation of cortical-basal ganglionic degeneration. Neurol 1999; 53: 1969-74
20. Hirano A, Iwata M. Pathology of motor neurons with special reference to amyotrophic lateral sclerosis and related diseases. In Amyotrophic Lateral Sclerosis. Eds T Tsubaki, Y Toyokura. Tokyo: University of Tokyo Press. 1979: 107-33
21. Hirano A, Kurland LT, Sayre GP. Familial amyotrophic lateral sclerosis: a subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells. Arch Neurol 1967; 16: 232-43
22. Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube R, Nance M, Fan C, Kaplan J, Hung W-Y, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000; 284: 1664-9
23. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, Van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JBJ, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, Van Swieten J, Mann D, Lynch T, & Heutink P. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998; 393: 702-5
24. Ince PG, Lowe J, Shaw PJ. Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Nenrobiol 1998; 24: 104-17
25. Ince PG, Perry EK, Morris CM. Dementia with Lewy bodies. A distinct non-Alzheimer dementia syndrome? Brain Pathol 1998; 8: 299-324
26. Ince PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ. Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase, molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998; 57: 895-904
27. Jackson M, Lowe J. The new neuropathology of degenerative frontotemporal dementias, Acta Neuropathol 1996; 91: 127-34
28. Katayama S, Watanabe C, Noda K, Ohishi H, Yamamura Y, Nishisaka T, Inai K, Asayama K, Murayama S, Nakamura S. Numerous conglomerate inclusions in slowly progressive familial amyotrophic lateral sclerosis with posterior column involvement. J Neurol Sci 1999; 171: 72-7
29. Kato T, Katagiri T, Shikama Y, Kurita K, Toyoshima I, Hirano A. Wada M, Sasaka H. Heparan sulfate-like immunoreactivity in the spinal cord in motor neuron disease. Acta Neuropathol 1993; 85: 663-5
30. Kato T, Kurita K. Seino T. Kadoya T, Horie H, Wada M, Kawanami T, Daimon M, Hirano A. Galectin-1 is a component of neurofilamentous lesions in sporadic and familial amyotrophic lateral sclerosis. Biochem Biophys Res Comm 2001; 282: 166-72
31. Kertesz A, Munoz D. Pick's disease, frontotemporal dementia, and Pick complex: emerging concepts, Arch Neurol 1998; 55: 302-4
32. Kertesz A, Nadkarni N, Davidson W, Thomas AW. The frontal behavioral inventory in the differential diagnosis of frontotemporal dementia. J Inter Neuropsych Soc 2000; 6: 460-8
33. Kihara T, Yoshida S, Uebayashi Y, Yase Y, Yoshimasu F. Involvement of Onuf's nucleus in ALS. J Neurol Sci 1991; 104: 119-28
34. Kinoshita A, Tomimoto H, Suenaga T, Akiguchi I, Kimura J. Ubiquitin-related cytoskeletal abnormality in frontotemporal dementia: immunohistochemical and immunoelectron microscope studies. Acta Neuropathol 1997; 94: 67-72
35. Knopman DS, Mastri AR, Frey WH 2nd, Sung HJ, Rustan T. Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. Neurol 1990; 40: 251-6
36. Kosaka K, Ikeda K, Kobayashi K, Mehraein P. Striatopallidonigral degeneration in Pick's disease. a clinicopathological study of 41 cases. J Neurol 1991; 238: 151-60
37. Kusaka H. Matsumoto S. Imai T. Adult-onset motor neuron disease with basophilic intraneuronal inclusion bodies. Clin Neuropathol 1993; 12: 215-8
38. Kusaka H. Matsumoto S, Imai T. An adult-onset case of sporadic motor neuron disease with basophilic inclusions. Acta Neuropathol (Berl) 1990; 80: 660-5
39. Lipton AM, White CL III,Bigio EH. Frontal lobe dementia with ubiquitinated inclusions predominates in 40 cases of frontotemporal degeneration. J Neuropathol Exp Neurol 2001; 60: 514
40. Lowe J. New pathological findings in amyotrophic lateral sclerosis. J Neurol Sci 1994; 124: 38-51
41. The Lund and Manchester Groups. Consensus statement. Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psych 1994; 57: 416-8
42. Matsumoto S, Kusaka H, Murakami N, Hashizume Y, Okazaki H, Hirano A. Basophilic inclusions in sporadic juvenile amyotrophic lateral sclerosis: an immunocytochemical and ultrastructural study. Acta Neuropathol (Berl) 1992; 83: 579-83
43. McKeith IG, Galasko D, Kosaka K, Perry EK, Dickson DW, Hansen LA, Salmon DO, Lowe J, Mirra SS, Byrne EJ, Lennox G, Ouinn NP, Edwardson JA, Ince PG, Bergeron C, Burns A, Miller BL, Lovestone S, Collerton D, Jansen EN, Ballard C, de Vos RA, Wilcock GK, Jellinger KA, Perry RH. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): Report of the consortium on DLB international workshop. Neurol 1996; 47: 1113-24
44. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ. Clinical and pathological diagnosis of frontotemporal dementia. Arch Neurol 2001; 58: 1803-9
45. Miller BL, Ikonte C, Ponton M, Levy M, Boone K, Darby A, Berman N, Mena I, Cummings JL. A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations, Neurol 1997; 48: 937-42
46. Munoz-Garcia D, Ludwin SK. Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. Ann Neurol 1984; 16: 467-80
47. Murrell JR, Spillantini MG, Zolo P, Guazzellí M, Smith MJ, Hasegawa M, Redi F. Tau gene mutation G389R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J Neuropathol Exp Neurol 1999; 58: 1207-26
48. Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM-Y. Wilhelmsen KC, Geschwind DH. From genotype to phenotype, a clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation, Ann Neurol 1999; 45: 704-15
49. Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, Freedman M, Kertesz A, Robert PH, Albert M, Boone K, Miller BL, Cummings J, Benson DF. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurol 1998; 51: 1546-54
50. Nelson JS, Prensky AL. Sporadic juvenile amyotrophic lateral sclerosis. A clinicopathological study of a case with neuronal cytoplasmic inclusions containing RNA. Arch Neurol 1972; 27: 300-6
51. Neumann M, Schulz-Schaeffer W, Crowther RA, Smith MJ. Spillantini MG, Goedert M, Kretzschmar HA. Pick's disease associated with the novel Tau gene mutation K369I. Ann Neurol 2001; 50: 503-13
52. Oda M. Akagawa N, Tabuchi Y, Tanabe H. A sporadic juvenile case of the amyotrophic lateral sclerosis with neuronal intracytoplasmic inclusions. Acta Neuropathol (Berl) 1978; 44: 211-6
53. Okamoto K, Hirai S, Amari M, Iizuka T, Watanabe M, Murakami N, Takatama M. Oculomotor nuclear pathology in amyotrophic lateral sclerosis. Acta Neuropathol 1993; 85: 458-62
54. Okamoto K, Hirai S, Amari M, Sakurai A. Electron micrograph of ubiquitin-positive intraneuronal inclusions in the extra-motor cortices in patients with amyotrophic lateral sclerosis. Neuropathol 1996; 16: 112-6
55. Okamoto K, Hirai S, Amari M, Watanabe M, Sakurai A. Bunina bodies in amyotrophic lateral sclerosis immunostained with rabbit anti-cystatin C serum. Neurosci Lett 1993: 162: 125-8
56. Pickering-Brown S, Baker M, Yen S-H, Liu W-K, Hasegawa M, Cairns N, Lantos PL, Rossor M, Iwatsubo T, Davies Y, Allsop D, Furlong R, Owen F, Hardy J, Mann D, Hutton M. Pick's disease is associated with mutations in the tau gene. Ann Neurol 2000; 48: 859-67
57. Reed LA, Wszolek ZK, Hutton M, Phenotypic correlations in FTDP-17. Neurobiol Aging 2001; 22: 89-107
58. Rinne JO, Lee MS, Thompson PD, Marsden CD. Corticobasal degeneration. a clinical study of 36 cases. Brain 1994; 117: 1183-96
59. Rizzini C, Goedert M, Hodges JR, Smith MJ, Jakes R. Hills R, Xuereb JH, Crowther A, Spillantini MG. Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J Neuropathol Exp Neurol 2000; 59: 990-1001
60. Rosso SM, van Herpen E, Deelen W, Kamphorst W, Severijnen L-A, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC. A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. Ann Neurol 2002; 51: 373-6
61. Rowland LP, Defendini R, Sherman W, Hirano A, Olarte MR, Latov N, Lovelace RE, Inoue K, Ossermann EF. Macroglobulinemia with peripheral neuropathy simulating motor neuron disease. Ann Neurol 1982; 11: 532-636
62. Sasaki S, Toi S, Shirata A, Yamane K, Sakuma H, Iwata M. Immunohistochemical and ultrastructural study of basophilic inclusions in adult-onset motor neuron disease. Acta Neuropathol 2001; 102: 200-6
63. Schochet SS, Hardman JM. Lodewig PP, Earle KM. Intraneuronal conglomerates in sporadic motor neuron disease. Arch Neurol 1969; 20: 548-53
64. Shelanski ML, Wisniewski H. Neurofibrillary degeneration induced by vincristine therapy. Arch Neurol 1969; 20: 199-206
65. 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
66. Spillantini MG, Crowther RA, Kamphorst W, Heurink P, van Swieten JC. Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau. Am J Pathol 1998; 153: 1359-63
67. Spillantini MG, Schmidt ML, Lee VM-Y, Trojanowski JO, Jakes R, Goedert M. α-Synuclein in Lewy bodies. Nature 1997; 388: 839-40
68. Talbot PR, Goulding PJ, Lloyd JJ, Snowden JS, Neary D. Testa HJ. Inter-relation between 'classic' motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study. J Neurol Neurosurg Psych 1995; 58: 541-7
69. Terry RD, Pena C. Experimental production of neurofibrillary degeneration 2. Electron microscopy, phosphatase histochemistry and electron probe analysis. J Neuropathol Exp Neurol 1965; 24: 200-10
70. Trojanowski JQ, Dickson DW. Update on the neuropathological diagnosis of frontotemporal dementias. J Neuropathol Exp Neurol 2001; 60: 1123-6
71. Wakabayashi K, Matsumoto K, Takayama K, Yoshimoto M, Takahashi H. NACP, a presynaptic protein, immunoreactivity in Lewy bodies in Parkinson's disease. Neurosci Lett 1997; 239: 45-8
72. Wenning GK, Litvan I, Jankovic J, Granata R, Mangone CA, McKee A, Poewe W, Jellinger K, Chaudhuri KR, D'Olhaberriague L, Pearce RKB. Natural history and survival of 14 patients with corticobasal degeneration confirmed at postmortem examination. J Neurol Neurosurg Psych 1998; 64: 184-9
73. Wightman G, Anderson VER, Martin J, Swash M, Anderton BH, Neary D, Mann D, Luthert P, Leigh PN. Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett 1992; 139: 269-74
74. Wilhelmsen KC. Chromosome 17-linked dementias. Cell Mol Life Sci 1998; 54: 920-4
75. Wilhelmsen KC, Clark LN, Miller BL, Geschwind DH. Tau mutations in frontotemporal dementia. Dement Geriatr Cogn Disord 1999; 10 (Suppl. 1): 88-92