Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

Acta Neuropathologica

Volumn 108, Issue 4, 2004, Pages 332-336

  Tan, Chun Feng ^a   Piao, Yue Shan ^a   Hayashi, Shintaro ^a   Obata, Hiroaki ^b   Umeda, Yoshitaka ^b   Sato, Masahisa ^b   Fukushima, Takao ^b   Nakano, Ryoichi ^b   Tsuji, Shoji ^c   Takahashi, Hitoshi ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Niigata University   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Bulbar symptom (hoarseness); Cu Zn superoxide dismutase; Nucleus ambiguus; SOD1 immunoreactive inclusion

Indexed keywords

ASPARTIC ACID; COPPER ZINC SUPEROXIDE DISMUTASE; HYALIN; NEUROFILAMENT PROTEIN; SUPEROXIDE DISMUTASE; TYROSINE; UBIQUITIN;

ADULT; AMBIGUUS NUCLEUS; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; BLOOD ANALYSIS; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; CYTOPLASM; DEATH; DISEASE SEVERITY; ELECTROMYOGRAPHY; EXON; FAMILY HISTORY; GENE MUTATION; HOARSENESS; HUMAN; IMMUNOREACTIVITY; LEWY BODY; MALE; MISSENSE MUTATION; MOTONEURON; NERVE DEGENERATION; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SYMPTOM;

AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; HOARSENESS; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; MOTOR NEURONS; MUTATION; NERVE DEGENERATION; PEDIGREE; POLYMERASE CHAIN REACTION; SUPEROXIDE DISMUTASE; VOCAL CORD PARALYSIS;

EID: 4844226215     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0893-4     Document Type: Article

References (37)

1. Andersen PM, Morita M, Brown RH Jr (2000) Genetics of amyotrophic lateral sclerosis: an overview. In: Brown RJ, Meininger V, Swash M (eds) Amyotrophic lateral sclerosis. Martin Dunitz, London, pp 223-250
2. Arisato T, Okubo R, Arata H, Abe K, Fukada K, Sakoda S, Shimizu A, Qin XH, Izumo S, Osame M, Nakagawa M (2003) Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families. Acta Neuropathol 106:561-568
3. Carpenter RJ, McDonald TJ, Howard FM (1978) The otolaryngologic presentation of amyotrophic lateral sclerosis. Otolaryngology 86:479-484
4. Cervenakova L, Protas II, Hirano A, Votiakov VI, Nedzved MK, Kolomiets ND, Taller I, Park K-Y, Sambuughin N, Gajdusek DC, Brown P, Goldfarb LG (2000) Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). J Neurol Sci 177:124-130
5. Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH (1997) Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 41: 210-221
6. Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr (1998) Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 43:703-710
7. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soiano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science 261:1047-1051
8. Hand CK, Rouleau GA (2002) Familial amyotrophic lateral sclerosis. Muscle Nerve 25:135-159
9. Hirano A, Kurland LT, Sayre GP (1967) Familial amyotrophic lateral sclerosis. A subgroup characterized by posterior and spinocerebellar tract involvement and hyaline inclusions in the anterior horn cells. Arch Neurol 16:232-243
10. Ikeda M, Abe K, Aoki M, Ogasawara M, Kameya T, Watanabe M, Shoji M, Hirai S, Itoyama Y (1995) A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 4:491-492
11. Ince PG, Shaw PJ, Slade JY, Jones C, Hundgson P (1996) Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol 92:395-403
12. Ince PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ (1998) Amyotrophic lateral sclerosis associated with generic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previously reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 57:895-904
13. Inoue K, Fujimura H, Ogawa Y, Satoh T, Shimada K, Sakoda S (2002) Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 gene: a clinicopathological study. Amyotroph Lateral Scler Other Motor Neuron Disord 3:244-247
14. Jones CT, Shaw PJ, Chari G, Brock DJH (1994) Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 8:329-330
15. Kadekawa J, Fujimura H, Ogawa Y, Hattori N, Kaido M, Nishimura T, Yoshikawa H, Shirahata N, Sakoda S, Yanagihara T (1997) A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene. Acta Neuropathol 94:617-622
16. Kato S, Shimoda M, Watanabe Y, Nakashima K, Takahashi K, Ohama E (1996) Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes. J Neuropathol Exp Neurol 55:1089-1101
17. Kokubo Y, Kuzuhara S, Narita Y, Kikugawa K, Nakano R, Inuzuka T, Tsuji S, Watanabe M, Miyazaki T, Murayama S, Ihara Y (1999) Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol 56: 1506-1508
18. Kostrzewa M, Damian MS, Müller U (1996) Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 98:48-50
19. Mizusawa H, Nakamura I, Washiyama I, Yen S-HC, Hirano A (1991) Skein-like inclusions in the anterior horn cell cells in motor motor neuron disease. J Neurol Sci 105:14-21
20. Mochizuki Y, Mizutani T, Nakano R, Fukushima T, Honma T, Nemoto N, Takei K (2003) Clinical and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase (in Japanese with English abstract). Rinsho Shinkeigaku 43:491-495
21. Mulder DW, Kurland LT, Offord KP, Beard CM (1986) Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 36:511-517
22. Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Takahashi H, Ikuta F, Honma Y, Fujii J, Taniguchi N, Tsuji S (1994) A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem Biophy Res Commun 200:695-703
23. Ohi T, Saita K, Takechi S, Nabesima K, Tshiro H, Shiomi K, Sugimoto S, Akematsu T, Nakayama T, Iwaki T, Matsukura S (2002) Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci 197:73-78
24. Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJM, Belleroche JS de (1995) Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry 59:266-270
25. Orrell RW, Habgood J, Rudge P, Lane RJM, Belleroche JS de (1996) Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis. Ann Neurol 39:810-812
26. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, Oregan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasck D,Cayabyab A, Gaston SM, Berger R,Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA,Haines J, Rouleau GA, Gusella JS, Horritz HR, Brown RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62
27. Rouleau GA, Clark AW, Rooke K, Pramatarova A, Krizus A, Suchowersky O, Julien JP, Figlewicz D (1996) SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 39:128-131
28. Sato T, Yamamoto Y, Nakanishi T, Fukada K, Sugai F, Zhou Z, Okuno T, Nagano S, Hirata S, Shimizu A, Sakoda S (2004) Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analysis. J Neurol Sci 218: 79-83
29. Shaw CE, Enayat ZE, Powell JF, Anderson VE, Radunovic A, al-Sarraj S, Leigh PN (1997) Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology 49:1612-1616
30. Shaw CE, Enayat ZE, Chioza BA, Al-Chalabi A, Radunovic A, Powell JF, Leigh PN (1998) Mutations in all five exons of SOD1 may cause ALS. Ann Neurol 43:390-394
31. Shibata N, Hirano A, Kobayashi M, Siddique T, Deng HX, Hung WX, Kato T, Asayama K (1996) Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusion of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 55:481-490
32. Takahashi H (1995) Familial amyotrophic lateral sclerosis with or without mutation of the Cu/Zn superoxide dismutase gene (in Japanese). No To Shinkei 47:535-541
33. Takahashi H, Oyanagi K, Ikuta F, Tanaka M, Yuasa T, Miyatake T (1993) Widespread multiple system degeneration in a patient with familial amyotrophic lateral sclerosis. J Neurol Sci 120:15-21
34. Takahashi H, Makifuchi T, Nakano R, Sato S, Inuzuka T, Sakimura K, Mishina M, Honma Y, Tsuji S, Ikuta F (1994) Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene. Acta Neuropathol 88:185-188
35. Takehisa Y, Ujike H, Ishizu H, Terada S, Haraguchi T, Tanaka Y, Nishinaka T, Nobukuni K, Ihara Y, Namba R, Yasuda T, Nishibori M, Hayabara T, Kuroda S (2001) Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and Lewy body-like hyaline inclusions. Arch Neurol 58:736-740
36. Tsuchiya K, Shintani S, Nakabayashi H, Kikugawa K, Nakano R, Haga C, Nakano I, Ikeda K, Tsuji S (2000) Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family. Acta Neuropathol 100:603-607
37. Yulug IG, Katsanis N, Belleroche J de, Collinge J, Fisher EMC (1995) An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet 4:1101-1104