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Amyotrophic Lateral Sclerosis Volume 13, 2012 - Issue 6
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Research Article

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

Jonathan S. KatzForbes Norris ALS/MND Research Center, California Pacific Medical Center, San Francisco, California, USACorrespondence[email protected]
,
Hans D. KatzbergDepartment of Neurology, University Health Network, University of Toronto, Toronto, Ontario, Canada
,
Susan C. WoolleyForbes Norris ALS/MND Research Center, California Pacific Medical Center, San Francisco, California, USA
,
Stefan L. MarklundDepartment of Medical Biosciences
&
Peter M. AndersenDepartment of Clinical Neuroscience, Umeå University, Umeå, Sweden
Pages 567-569 | Received 21 Jan 2012, Accepted 19 Mar 2012, Published online: 07 Jun 2012

References

  • Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, . SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicentre Italian study. J Neurol. 2005;252:782–8.
  • Masè G, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, . ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene. J Neurol Sci. 2001;191:11–8.
  • Lopate G, Baloh RH, Al-Lozi MT, Miller TM, Fernandes Filho JA, Ni O, . Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Scler. 2010;11:232–6.
  • Wicks P, Abrahams S, Papps B, Al-Chalabi A, Shaw CE, Leigh PN, . SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. J Neurol. 2009;256:234–41.
  • Strong MJ, Grace GM, Freedman M, Lomen-Hoerth C, Woolley S, Goldstein LH, . Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:131–46.
  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, . Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Kovacs GG, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, . TARDP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord. 2009;24:1843–7.
  • Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, . FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry. 2010;81:639–45.
  • van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, . A case of ALS-FTD in a large FALS pedigree with a K17/ANG mutation. Neurology. 2009;72: 287–8.
  • Luty AA, Kwok JB, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, . Sigma non-opioid receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol. 2010;68:639–49.
  • Osawa T, Mizuno Y, Fujita Y, Takatama M, Nakazato Y, Okamoto K. Optineurin in neurodegenerative diseases. Neuropathology. 2011; 31:569–74.
  • Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, . TDP-43 is consistently colocalized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations. Neuropathology. 2009;29: 672–83.
  • Woolley SC, York MK, Moore DH, Strutt AM, Murphy J, Schulz PE, . Detecting frontotemporal dysfunction in ALS: utility of the ALS Cognitive Behavioral Screen (ALS-CBS). Amyotroph Lateral Scler. 2010;11:303–11.
  • Andersen PM, Nilsson P, Forsgren L, Marklund SL. Cu/Zn superoxide dismutase, extracellular-superoxide dismutase, and glutathione peroxidase in individuals homozygous for Asp90Ala Cu/Zn superoxide dismutase mutation. J Neurochem. 1998;70:715–20.
  • Stewart HG, Andersen PM, Eisen A, Weber M. Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations. Clinical Neurophysiology. 2006;117:1850–61.
  • Eisen A, Mezei M, Stewart HG, Fabros M, Gibson G, Andersen PM. SOD1 gene mutations in ALS patients in British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler. 2008;9:108–19.
  • Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol. 2011;7:603–15.
  • Lillo P, Garcin B, Hornberger M, Bak TH, Hodges JR. Neurobehavioural features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol. 2010;67:826–30.

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