Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches

Acta Neuropathologica

Volumn 99, Issue 6, 2000, Pages 615-618

  Yamada, Mitsunori ^a   Piao, Yue Shan ^a   Toyoshima, Yasuko ^a   Tsuji, Shoji ^a   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

Cerebellar dentate nucleus neuron; Dentatorubral pallidoluysian atrophy; Immunohistochemistry; Polyglutamine; Skein like inclusion

Indexed keywords

MONOCLONAL ANTIBODY; POLYGLUTAMINE; UBIQUITIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CLINICAL ARTICLE; CONTROLLED STUDY; DENTATE NUCLEUS; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SPINAL CORD VENTRAL HORN;

EID: 0034075922     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010051171     Document Type: Article

References (22)

1. Altschuler EL (1999) Polyglutamine aggregates: a possible component of eosinophilic intranuclear inclusions in the hippocampal pyramidal neurons of a patient with amyotrophic lateral sclerosis? Acta Neuropathol 97 : 103
2. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277 : 1990-1993
3. Hayashi Y, Kakita A, Yamada M, Egawa S, Oyanagi S, Naito H, Tsuji S, Takahashi H (1998) Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons. Acta Neuropathol 95 : 479-482
4. Hayashi Y, Kakita A, Yamada M, Koide R, Igarashi S, Takano H, Ikeuchi T, Wakabayashi K, Egawa S, Tsuji S, Takahashi H (1998) Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropathol 96 : 547-552
5. Holmberg M, Duyckaerts C, Dürr A, Cancel G, Gourfinkel-An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A (1998) Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 7 : 913-918
6. Igarashi S, Koide R, Shimohata T, Yamada M, Hayashi Y, Takano H, Date H, Oyake M, Sato T, Egawa S, Ikeuchi T, Tanaka H, Nakano R, Tanaka K, Hozumi I, Inuzuka T, Takahashi H, Tsuji S (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitions in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 18 : 111-117
7. Kakita A, Oyanagi K, Nagai H, Takahashi H (1997) Eosinophilic intranuclear inclusions in the hippocampal pyramidal neurons of a patient with amyotrophic lateral sclerosis. Acta Neuropathol 93 : 532-536
8. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8 : 221-228
9. Naito H, Oyanagi S (1982) Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32 : 798-807
10. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel J-L, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19 : 333-344
11. Rosenberg RN (1992) Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 7 : 193-203
12. Ross CA (1995) When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15 : 493-496
13. Ross CA (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19 : 1147-1150
14. Sapp E, Penney J, Young A, Aronin N, Vonsattel JP, DiFiglia M (1999) Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease. J Neuropathol Exp Neurol 58 : 165-173
15. Sato T, Oyake M, Nakamura K, et al (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum Mol Genet 8 : 99-106
16. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, Zoghbi HY, Orr HT (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389 : 971-974
17. Takahashi H, Ohama E, Naito H, Takeda S, Nakashima S, Makifuchi T, Ikuta F (1988) Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 38 : 1065-1070
18. Takano H, Onodera O, Takahashi H, Igarashi S, Yamada M, Oyake M, Ikeuchi T, Koide R, Tanaka H, Iwabuchi K, Tsuji S (1996) Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58 : 1212-1222
19. Takeda S, Takahashi H (1996) Neuropathology of dentatorubropallidoluysian atrophy. Neuropathology 16 : 48-55
20. Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora J, Agid Y, Brice A, Mandel JL (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378 : 403-406
21. Tsuji S (1996) Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases. Jpn J Hum Genet 41 : 279-290
22. Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I (1995) Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet 10 : 99-103