Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation

Andersen PM, Al-Chalabi A (2011) Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 7:603–615. https://doi.org/10.1038/nrneurol.2011.150

Article  CAS  PubMed  Google Scholar 

Andersen PM, Borasio GD, Dengler R, Hardiman O, Kollewe K, Leigh PN et al (2005) EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. Eur J Neurol 12:921–938. https://doi.org/10.1111/j.1468-1331.2005.01351.x

Article  CAS  PubMed  Google Scholar 

Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keranen ML et al (1996) Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 119:1153–1172. https://doi.org/10.1093/brain/119.4.1153

Article  PubMed  Google Scholar 

Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T et al (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 10:61–66. https://doi.org/10.1038/ng0595-61

Article  CAS  PubMed  Google Scholar 

Andersen PM, Nordstrom U, Tsiakas K, Johannsen J, Volk AE, Bierhals T et al (2019) Phenotype in an infant with SOD1 homozygous truncating mutation. N Engl J Med 381:486–488. https://doi.org/10.1056/NEJMc1905039

Article  PubMed  Google Scholar 

Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J et al (2003) Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord 4:62–73. https://doi.org/10.1080/14660820310011700

Article  CAS  PubMed  Google Scholar 

Bancroft J, Cook H (1994) Manual of histological techniques and their diagnostic application. Churchill Livingstone, Edinburgh

Google Scholar 

Bidhendi EE, Bergh J, Zetterstrom P, Andersen PM, Marklund SL, Brannstrom T (2016) Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease. J Clin Invest 126:2249–2253. https://doi.org/10.1172/JCI84360

Article  PubMed  PubMed Central  Google Scholar 

Brooks BR, Miller RG, Swash M, Munsat TL, World Federation of Neurology Research Group on Motor Neuron D (2000) El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:293–299. https://doi.org/10.1080/146608200300079536

Article  CAS  PubMed  Google Scholar 

Bruijn LI, Becher MW, Lee MK, Anderson KL, Jenkins NA, Copeland NG et al (1997) ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 18:327–338. https://doi.org/10.1016/s0896-6273(00)80272-x

Article  CAS  PubMed  Google Scholar 

Cappellari A, Ciammola A, Silani V (2008) The pseudopolyneuritic form of amyotrophic lateral sclerosis (Patrikios’ disease). Electromyogr Clin Neurophysiol 48:75–81

CAS  PubMed  Google Scholar 

de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J et al (2008) Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 119:497–503. https://doi.org/10.1016/j.clinph.2007.09.143

Article  PubMed  Google Scholar 

Choi J, Rees HD, Weintraub ST, Levey AI, Chin LS, Li L (2005) Oxidative modifications and aggregation of Cu, Zn-superoxide dismutase associated with Alzheimer and Parkinson diseases. J Biol Chem 280:11648–11655. https://doi.org/10.1074/jbc.M414327200

Article  CAS  PubMed  Google Scholar 

De La Cruz E, Guissart C, Esselin F, Polge A, Pageot N, Taieb G et al (2021) Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case. Amyotroph Lateral Scler Frontotemporal Degener 23:458–461. https://doi.org/10.1080/21678421.2021.1990344

Article  CAS  Google Scholar 

Ekhtiari Bidhendi E, Bergh J, Zetterstrom P, Forsberg K, Pakkenberg B, Andersen PM et al (2018) Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis. Acta Neuropathol 136:939–953. https://doi.org/10.1007/s00401-018-1915-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordstrom U et al (2022) Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity. Brain 145:872–878. https://doi.org/10.1093/brain/awab416

Article  PubMed  Google Scholar 

Feneberg E, Turner MR, Ansorge O, Talbot K (2020) Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology. Neurology 95:595–596. https://doi.org/10.1212/WNL.0000000000010587

Article  CAS  PubMed  Google Scholar 

Forsberg K, Andersen PM, Marklund SL, Brannstrom T (2011) Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis. Acta Neuropathol 121:623–634. https://doi.org/10.1007/s00401-011-0805-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Forsberg K, Graffmo K, Pakkenberg B, Weber M, Nielsen M, Marklund S et al (2019) Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes. J Neurol Neurosurg Psychiatry 90:861–869. https://doi.org/10.1136/jnnp-2018-319386

Article  PubMed  Google Scholar 

Forsberg K, Jonsson PA, Andersen PM, Bergemalm D, Graffmo KS, Hultdin M et al (2010) Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients. PLoS One 5:e11552. https://doi.org/10.1371/journal.pone.0011552

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D et al (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63:535–538. https://doi.org/10.1002/ana.21344

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hand CK, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W et al (2001) Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 49:267–271. https://doi.org/10.1002/1531-8249(20010201)49:2%3c267::aid-ana51%3e3.0.co;2-d

Article  CAS  PubMed  Google Scholar 

Jonsson PA, Ernhill K, Andersen PM, Bergemalm D, Brannstrom T, Gredal O et al (2004) Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis. Brain 127:73–88. https://doi.org/10.1093/brain/awh005

Article  PubMed  Google Scholar 

Jonsson PA, Graffmo KS, Andersen PM, Marklund SL, Brannstrom T (2009) Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation. Neurobiol Dis 36:421–424. https://doi.org/10.1016/j.nbd.2009.08.006

Article  CAS  PubMed  Google Scholar 

Jonsson PA, Graffmo KS, Brannstrom T, Nilsson P, Andersen PM, Marklund SL (2006) Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1. J Neuropathol Exp Neurol 65:1126–1136. https://doi.org/10.1097/01.jnen.0000248545.36046.3c

Article  CAS  PubMed  Google Scholar 

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C et al (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572–574. https://doi.org/10.1038/ng.132

Article  CAS  PubMed  Google Scholar 

Kato S, Takikawa M, Nakashima K, Hirano A, Cleveland DW, Kusaka H et al (2000) New consensus research on neuropathological aspects of familial amyotrophic lateral sclerosis with superoxide dismutase 1 (SOD1) gene mutations: inclusions containing SOD1 in neurons and astrocytes. Amyotroph Lateral Scler Other Motor Neuron Disord 1:163–184. https://doi.org/10.1080/14660820050515160

Article  CAS  PubMed  Google Scholar 

Katz JS, Katzberg HD, Woolley SC, Marklund SL, Andersen PM (2012) Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. Amyotroph Lateral Scler 13:567–569. https://doi.org/10.3109/17482968.2012.678365

Article  CAS  PubMed  Google Scholar 

Keskin I, Ekhtiari Bidhendi E, Marklund M, Andersen PM, Brannstrom T, Marklund SL et al (2021) Peripheral administration of SOD1 aggregates does not transmit pathogenic aggregation to the CNS of SOD1 transgenic mice. Acta Neuropathol Commun 9:111. https://doi.org/10.1186/s40478-021-01211-9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P et al (2000) Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu, Zn superoxide dismutase mutation within the same country. Eur J Neurol 7:207–211. https://doi.org/10.1046/j.1468-1331.2000.00028.x

Article  CAS  PubMed  Google Scholar 

Lange DJ, Andersen PM, Remanan R, Marklund S, Benjamin D (2013) Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: a phase I pilot study. Amyotroph Lateral Scler Frontotemporal Degener 14:199–204. https://doi.org/10.3109/17482968.2012.724074

Article  CAS  PubMed  Google Scholar 

Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I et al (2009) TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations. Neuropathology 29:672–683. https://doi.org/10.1111/j.1440-1789.2009.01029.x

Article  PubMed  Google Scholar 

Marklund SL, Andersen PM, Forsgren L, Nilsson P, Ohlsson PI, Wikander G et al (1997) Normal binding and reactivity of copper in mutant superoxide dismutase isolated from amyotrophic lateral sclerosis patients. J Neurochem 69:675–681. https://doi.org/10.1046/j.1471-4159.1997.69020675.x

Article  CAS  PubMed  Google Scholar 

Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM et al (1991) The Consortium to Establish a Registry for Alzheimer’s Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer’s disease. Neurology 41:479–486. https://doi.org/10.1212/wnl.41.4.479

Article  CAS 

留言 (0)

沒有登入
gif