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Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature

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Pages 137-139 | Received 29 Mar 2016, Accepted 13 Jun 2016, Published online: 05 Aug 2016

References

  • Pratt AJ, Getzoff ED, Perry JJ. Amyotrophic lateral sclerosis: update and new developments. Degener Neurol Neuromuscul Dis. 2012;2012:1–14.
  • Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol. 1997;41:210–21.
  • Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668–72.
  • Canosa A, Calvo A, Moglia C, Barberis M, Brunetti M, Cammarosano S, et al. A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16:127–8.
  • Dangoumau A, Deschamps R, Veyrat-Durebex C, Pettmann B, Corcia P, Andres CR, et al. A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16:131–4.
  • Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, et al. A large proportion of ALS cases in Sardinia are due to a single founder mutation of the TARDBP gene. Arch Neurol. 2011;68:594–8.
  • Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, et al. High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin Genet. 2012;81;172–8.
  • Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, et al. Genetic architecture of ALS in Sardinia. Neurobiol Aging. 2014;35:2882.e7–2882.e12.
  • Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, et al. The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative Parkinsonisms. Neurogenetics. 2013;14:161–6.

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