An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113TSOD1 mutation

Neuropathology

Volumn 34, Issue 1, 2014, Pages 58-63

  Nakamura, Seika ^a   Wate, Reika ^a   Kaneko, Satoshi ^a   Ito, Hidefumi ^b   Oki, Mitsuaki ^a   Tsuge, Ayako ^a   Nagashima, Masato ^a   Asayama, Shinya ^a   Fujita, Kengo ^a   Nakamura, Masataka ^a   Maruyama, Hirofumi ^c   Kawakami, Hideshi ^c   Kusaka, Hirofumi ^a  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c HIROSHIMA UNIVERSITY   (Japan)

Author keywords

Familial amyotrophic lateral sclerosis; Lewy body like hyaline inclusion; Neurofibrillary tangle; Neurofilamentous conglomerate inclusion; Sporadic amyotrophic lateral sclerosis

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; GENOMIC DNA; TAU PROTEIN; UBIQUITIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; BRAIN TISSUE; CASE REPORT; CEREBELLUM; CONTROLLED STUDY; DNA DETERMINATION; DYSPNEA; ELECTROMYOGRAPH; FAMILY HISTORY; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LUMBAR SPINAL CORD; MALE; MEDULLA OBLONGATA; MESENCEPHALON; MIDDLE AGED; NEUROFIBRILLARY TANGLE; NEUROFILAMENT; PERIAQUEDUCTAL GRAY MATTER; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PYRAMIDAL TRACT; RESPIRATORY FAILURE; SPINOCEREBELLAR TRACT;

FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; LEWY BODY-LIKE HYALINE INCLUSION; NEUROFIBRILLARY TANGLE; NEUROFILAMENTOUS CONGLOMERATE INCLUSION; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS;

AMYOTROPHIC LATERAL SCLEROSIS; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBRILLARY TANGLES; SUPEROXIDE DISMUTASE;

EID: 84892830164     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12049     Document Type: Article

References (24)

1. Rosen DR, Siddique T, Patterson D etal. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59-62.
2. Engel WK, Kurland LT, Klatzo I. An inherited disease similar to amyotrophic lateral sclerosis with a pattern of posterior column involvement. An intermediate form? Brain 1959; 82: 203-220.
3. 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: 232-243.
4. Deng HX, Hentati A, Tainer JA etal. Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 1993; 261: 1047-1051.
5. Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 1998; 43: 703-710.
6. Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu, Zn superoxide dismutase. Neurology 1997; 48: 55-57.
7. Lopate G, Baloh RH, Al-Lozi MT etal. Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Scler 2010; 11: 232-236.
8. Jones CT, Swingler RJ, Simpson SA, Brock DJ. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32: 290-292.
9. Suthers G, Laing N, Wilton S, Dorosz S, Waddy H. "Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance. Lancet 1994; 344: 1773.
10. 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.
11. Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJ, de Belleroche JS. Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatry 1995; 59: 266-270.
12. Rouleau GA, Clark AW, Rooke K etal. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 1996; 39: 128-131.
13. Kokubo Y, Kuzuhara S, Narita Y etal. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol 1999; 56: 1506-1508.
14. Hays AP, Naini A, He CZ, Mitsumoto H, Rowland LP. Sporadic amyotrophic lateral sclerosis and breast cancer: hyaline conglomerate inclusions lead to identification of SOD1 mutation. J Neurol Sci 2006; 242: 67-69.
15. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 1994; 124: 96-107.
16. Takahashi H, Makifuchi T, Nakano R etal. Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene. Acta Neuropathol 1994; 88: 185-188.
17. Shibata N, Hirano A, Kobayashi M etal. Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement. J Neuropathol Exp Neurol 1996; 55: 481-490.
18. Hirano A, Nakano I, Kurland LT, Mulder DW, Holley PW, Saccomanno G. Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis. Exp Neurol 1984; 43: 471-480.
19. Kato T, Hirano A, Kurland LT. Asymmetric involvement of the spinal cord involving both large and small anterior horn cells in a case of familial amyotrophic lateral sclerosis. Clin Neuropathol 1987; 6: 67-70.
20. Ohi T, Saita K, Takechi S etal. Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci 2002; 197: 73-78.
21. Shaw CE, Enayat ZE, Powell JF etal. Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology 1997; 49: 1612-1616.
22. Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. Brain 1981; 104: 217-247.
23. Hirano A, Malamud N, Elizan TS, Kurland LT. Amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Further pathologic studies. Arch Neurol 1966; 15: 35-51.
24. Hirano A, Zimmerman HM. Alzheimer's neurofibrillary changes. A topographic study. Arch Neurol 1962; 7: 227-242.