Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

Lancet

Volumn 351, Issue 9096, 1998, Pages 131-133

  Davies, Stephen W ^a   Beardsall, Kathryn ^a   Turmaine, Mark ^a   DiFiglia, Marian ^b   Aronin, Neil ^b   Bates, Gillian P ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HARVARD MEDICAL SCHOOL   (United States)

^c GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; HYALIN;

CELL NUCLEUS INCLUSION BODY; GENETIC DISORDER; HUMAN; HUNTINGTON CHOREA; INHERITANCE; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; TRANSGENIC MOUSE;

EID: 0032501740     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(97)08360-8     Document Type: Note

References (39)

1. 1 Huntington's Disease Collaborative Research Group (HDCRG). A novel gene containing a trinucleotide repeat that is unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-83.
2. 2 Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994; 6: 9-13.
3. 3 Nakafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994; 6: 14-18.
4. 4 Nakamura M, Mita S, Murakami T, et al. Exonic trinucleotide repeats and expression of androgen receptor gene in spinal cord from x-linked spinal and bulbar muscular atrophy. Ann Neurol 1993; 34: 261.
5. 5 LaSpada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-79.
6. 6 Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-26.
7. 7 Banfi S, Servadio A, Chung M, et al. Identification and characterisation of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994; 3: 513-20.
8. 8 Imbert G, Sandou F, Yvert G, et al. Cloning of the gene for spino-cerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996; 14: 285-91.
9. 9 Sanpei K, Takano H, Igarishi S, et al. Identification of the spinocerebellar ataxis type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996; 14: 277-84.
10. 10 Pulst S-M, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269-76.
11. 11 Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-28.
12. 12 Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxis (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage dependent calcium channel. Nat Genet 1997; 15: 62-69.
13. 13 Gilles D, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997; 17: 65-70.
14. 14 Robitaille Y, Lopes-Cendes I, Becher MW, et al. The neuropathology of CAG repeat diseases: review and update of genetic and molecular features. Brain Path 1997; 7: 877-81.
15. 15 Ross CA, Becher MW, Colomer V, et al. Huntington's disease and dentatorubral-pallidoluysian atrophy: proteins, pathogenesis and pathology. Brain Pathol 1997; 7: 1003-17.
16. 16 Young AB. In: Martin JB, ed. Huntington's disease and other trinucleotide repeat disorders in molecular neurology. Scientific American Medicine, 1977 (in press).
17. 17 Sathasivam K, Amaechi I, Mangiarini L, Bates GP. Identification of an HD patient with a (CAG) 180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage. Hum Genet 1997; 99: 692-95.
18. 18 Mangiarini L, Sathasivam K, Seller M, et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996; 87: 493-506.
19. 19 Bates GP, Mangiarini L, Mahal A, Davies SW. Transgenic models of Huntington's disease. Hum Mol Genet 1997; 6: 1633-37.
20. 20 Davies SW, Turmaine M, Cozens BA, et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transfenic for the HD mutation. Cell 1997; 90: 537-48.
21. 21 Difiglia M, Sapp E, Chase KO, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277: 1990-93.
22. 22 Roizin L, Stellar S, Liu JC. Neuronal nuclear-cytoplasmic changes in Huntington's chorea: electron microscope investigations. In: Chase TN, Wexler NS, Barbeau A, eds. Advances in Neurology. New York: Raven Press, 1979; 23: 95-122.
23. 23 Paulson HL, Sonal SD, Crino PB, et al. Machado-Joseph Disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 1997; 41: 453-62.
24. 24 Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997; 19: 333-44.
25. 25 Heintz N, Zoghbi H. α-synuclein - a link between Parkinson and Alzheimer diseases? Nat Genet 1997; 16: 325-27.
26. 26 Skinner PJ, Koshy B, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997; 389: 971-74.
27. 27 Scherzinger E, Lurz R, Turmaine M, et al. Huntingtin encoded polyglutamine expansions from amyloid-like protein aggregates in vitro and in vivo. Cell 1997; 90: 549-58.
28. 28 Lindenberg R, Rubenstein L, Herman M, Haydon G. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. Acta Neuropathol 1968; 10: 54-73.
29. 29 Schuffler MD, Bird TD, Sumi SM, Cook A. A familial neuronal disease presenting as intestinal pseudoobstruction. Gastroenterol 1978; 75: 889-98.
30. 30 Janota I. Widespread intranuclear neuronal corpuscles (Marinesco Bodies) associated with a familial spinal degeneration with cranial and peripheral nerve involvement. Neuropathol Appl Neurobiol 1979; 5: 311-17.
31. 31 Parker JC. Sporadic spinocerebellar degeneration associated with intranuclear inclusions and arteriosclerotic heart disease. Exp Neurol 1983; 42: 352.
32. 32 Soffer D. Neuronal intranuclear hyaline inclusion disease presenting as Friedreich's ataxia. Acta Neuropathol 1985; 65: 322-29.
33. 33 Sloane AE, Becker LE, Ang LC, et al. Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia. Pediatr Neurol 1994; 10: 61-66.
34. 34 Sung JH. Light, fluorescence, and electron microscopic features of neuronal intranuclear hyaline inclusions associated with multisystem atrophy. Acta Neuropathol 1980; 50: 115-20.
35. 35 Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM. An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease): a clinicopathological study of a case. J Neuropathol Exp Neurol 1980; 39: 107-30.
36. 36 Patel H, Norman MG, Perry TL, Berry KE. Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a case and review of the literature. J Neurol Sci 1985; 67: 57-65.
37. 37 Munoz-Garcia D, Ludwin SK. Adult-onset neuronal intranuclear hyaline inclusion disease. Neurology 1986; 36: 785-90.
38. 38 Trottier Y, Lutz Y, Stevanin G, et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-06.
39. 39 Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet 1993; 4: 136-39.