Basophilic inclusions and neuronal intermediate filament inclusions in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

Neuropathology

Volumn 34, Issue 6, 2014, Pages 589-595

  Ito, Hidefumi ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Basophilic inclusion; Frontotemporal lobar degeneration; Neuronal intermediate filament inclusion; Review

Indexed keywords

ALPHA INTERNEXIN; HYALIN; PROTEIN S6; SEQUESTOSOME 1; TAR DNA BINDING PROTEIN; TAU PROTEIN; ALPHA SYNUCLEIN; DNA BINDING PROTEIN; MAPT PROTEIN, HUMAN; NEUROFILAMENT PROTEIN; TDP-43 PROTEIN, HUMAN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BASOPHILIC INCLUSION; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CELL STRUCTURE; CLINICAL FEATURE; DISEASE ASSOCIATION; EOSINOPHIL; FRONTOTEMPORAL DEMENTIA; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; NEUROFILAMENT; PROTEIN AGGREGATION; RNA PROCESSING; UBIQUITINATION; ULTRASTRUCTURE; INTERMEDIATE FILAMENT; METABOLISM; NERVE CELL; PATHOLOGY;

ALPHA-SYNUCLEIN; AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; INCLUSION BODIES; INTERMEDIATE FILAMENTS; NEUROFILAMENT PROTEINS; NEURONS; TAU PROTEINS;

EID: 84915823076     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12119     Document Type: Article

References (50)

1. Wohlfart G, Swank RL. Pathology of amyotrophic lateral sclerosis. Fiber analysis of the ventral roots and pyramidal tracts of the spinal cord. Arch Neurol Psychiatry 1941; 46: 783-799.
2. 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: 300-306.
3. 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: 211-216.
4. 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: 579-583.
5. 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: 109-113.
6. Hilton DA, McLean B. December 2001: rapidly progressive motor weakness, starting in pregnancy. Brain Pathol 2002; 12: 267-269.
7. Kusaka H, Matsumoto S, Imai T. An adult-onset case of sporadic motor neuron disease with basophilic inclusions. Acta Neuropathol (Berl) 1990; 80: 660-665.
8. Sam M, Gutmann L, Schochet SS Jr, Doshi H. Pick's disease: a case clinically resembling amyotrophic lateral sclerosis. Neurology 1991; 41: 1831-1833.
9. Mizutani T, Sakamaki S, Tsuchiya N etal. Amyotrophic lateral sclerosis with ophthalmoplegia and multisystem degeneration in patients on long-term use of respirators. Acta Neuropathol (Berl) 1992; 84: 372-377.
10. Kusaka H, Matsumoto S, Imai T. Adult-onset motor neuron disease with basophilic intraneuronal inclusion bodies. Clin Neuropathol 1993; 12: 215-218.
11. 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 (Berl) 2001; 102: 200-206.
12. Tsuchiya K, Matsunaga T, Aoki M etal. Familial amyotrophic lateral sclerosis with posterior column degeneration and basophilic inclusion bodies: a clinical, genetic and pathological study. Clin Neuropathol 2001; 20: 53-59.
13. Munoz-Garcia D, Ludwin SK. Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study. Ann Neurol 1984; 16: 467-480.
14. Hamada K, Fukazawa T, Yanagihara T etal. Dementia with ALS features and diffuse Pick body-like inclusions (atypical Pick's disease?). Clin Neuropathol 1995; 14: 1-6.
15. Ishihara K, Araki S, Ihori N, Shiota J, Kawamura M, Nakano I. An autopsy case of frontotemporal dementia with severe dysarthria and motor neuron disease showing numerous basophilic inclusions. Neuropathology 2006; 26: 447-454.
16. Yokota O, Tsuchiya K, Terada S etal. Basophilic inclusion body disease and neuronal intermediate filament inclusion disease: a comparative clinicopathological study. Acta Neuropathol (Berl) 2008; 115: 561-575.
17. Munoz DG, Neumann M, Kusaka H etal. FUS pathology in basophilic inclusion body disease. Acta Neuropathol (Berl) 2009; 118: 617-627.
18. Munoz DG. The pathology of Pick complex. In: Kertesz A, Munoz DG, eds. Pick's Disease and Pick Complex. New York: Wiley-Liss, 1998; 211-241.
19. Cairns NJ, Bigio EH, Mackenzie IR etal. Consortium for Frontotemporal Lobar Degeneration Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol (Berl) 2007; 114: 5-22.
20. Josephs KA, Holton JL, Rossor MN etal. Neurofilament inclusion body disease: a new proteinopathy? Brain 2003; 126: 2291-2303.
21. Cairns NJ, Perry RH, Jaros E etal. Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions. Neurosci Lett 2003; 341: 177-180.
22. Cairns NJ, Grossman M, Arnold SE etal. Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology 2004; 63: 1376-1384.
23. Yokoo H, Oyama T, Hirato J, Sasaki A, Nakazato Y. A case of Pick's disease with unusual neuronal inclusions. Acta Neuropathol (Berl) 1994; 88: 267-272.
24. Cairns NJ, Zhukareva V, Uryu K etal. Alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease. Am J Pathol 2004; 164: 2153-2161.
25. Mackenzie IR, Neumann M, Bigio EH etal. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (Berl) 2009; 117: 15-18.
26. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL etal. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009; 323: 1205-1208.
27. Vance C, Rogelj B, Hortobágyi T etal. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009; 323: 1208-1211.
28. Tateishi T, Hokonohara T, Yamasaki R etal. Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol (Berl) 2010; 119: 355-364.
29. Suzuki N, Aoki M, Warita H etal. FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. J Hum Genet 2010; 55: 252-254.
30. Kobayashi Z, Tsuchiya K, Arai T etal. Occurrence of basophilic inclusions and FUS-immunoreactive neuronal and glial inclusions in a case of familial amyotrophic lateral sclerosis. J Neurol Sci 2010; 293: 6-11.
31. Bäumer D, Hilton D, Paine SM etal. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 2010; 75: 611-618.
32. Yamamoto-Watanabe Y, Watanabe M, Okamoto K etal. A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: a clinical, pathological and genetic report. J Neurol Sci 2010; 296: 59-63.
33. Mackenzie IR, Ansorge O, Strong M etal. Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. Acta Neuropathol (Berl) 2011; 122: 87-98.
34. Suzuki N, Kato S, Kato M etal. FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation. J Neuropathol Exp Neurol 2012; 71: 779-788.
35. Mochizuki Y, Isozaki E, Takao M etal. Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement. J Neurol Sci 2012; 323: 85-92.
36. Neumann M, Roeber S, Kretzschmar HA, Rademakers R, Baker M, Mackenzie IR. Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease. Acta Neuropathol (Berl) 2009; 118: 605-616.
37. Ito H, Fujita K, Nakamura M etal. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease. Acta Neuropathol (Berl) 2011; 121: 555-557.
38. Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 2009; 132: 2922-2931.
39. Mackenzie IR, Neumann M, Bigio EH etal. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol (Berl) 2010; 119: 1-4.
40. Fujita K, Ito H, Nakano S, Kinoshita Y, Wate R, Kusaka H. Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease. Acta Neuropathol (Berl) 2008; 116: 439-445.
41. Uchikado H, Shaw G, Wang DS, Dickson DW. Screening for neurofilament inclusion disease using alpha-internexin immunohistochemistry. Neurology 2005; 64: 1658-1659.
42. Uchikado H, Li A, Lin WL, Dickson DW. Heterogeneous inclusions in neurofilament inclusion disease. Neuropathology 2006; 26: 417-421.
43. Gelpi E, Lladó A, Clarimón J etal. Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions. J Neuropathol Exp Neurol 2012; 71: 795-805.
44. Page T, Gitcho MA, Mosaheb S etal. FUS immunogold labeling TEM analysis of the neuronal cytoplasmic inclusions of neuronal intermediate filament inclusion disease: a frontotemporal lobar degeneration with FUS proteinopathy. J Mol Neurosci 2011; 45: 409-421.
45. Dormann D, Rodde R, Edbauer D etal. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J 2010; 29: 2841-2857.
46. Thomas M, Alegre-Abarrategui J, Wade-Martins R. RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum. Brain 2013; 136: 1345-1360.
47. Ling SC, Polymenidou M, Cleveland DW. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 2013; 79: 416-438.
48. Mackenzie IR, Munoz DG, Kusaka H etal. Distinct pathological subtypes of FTLD-FUS. Acta Neuropathol (Berl) 2011; 121: 207-218.
49. Bigio EH, Lipton AM, White CL 3rd, Dickson DW, Hirano A. Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: additional evidence for overlap between FTD and ALS. Neuropathol Appl Neurobiol 2003; 29: 239-253.
50. Neumann M, Bentmann E, Dormann D etal. FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations. Brain 2011; 134: 2595-2609.