109
Views
2
CrossRef citations to date
0
Altmetric
Short Report: Pathology

Atypical Alzheimer's disease in an elderly United States resident with amyotrophic lateral sclerosis and pathological tau in spinal motor neurons

, , , , , & show all
Pages 466-472 | Received 06 Dec 2013, Accepted 07 Mar 2014, Published online: 09 May 2014

References

  • Mackenzie IRA, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, et al. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol. 2010;119:1–4.
  • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130–3.
  • Geser F, Martinez-Lage M, Robinson J, Uryu K, Neumann M, Brandmeir NJ, et al. Clinical and pathological continuum of multisystem TDP-43 proteinopathies. Arch Neurol. 2009;66:180–9.
  • Geser F, Prvulovic D, O’Dwyer L, Hardiman O, Bede P, Bokde ALW, et al. On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia. Prog Neurobiol. 2011;95: 649–62.
  • Bäumer D, Hilton D, Paine SML, Turner MR, Lowe J, Talbot K, et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology. 2010; 75:611–8.
  • Huang EJ, Zhang J, Geser F, Trojanowski JQ, Strober JB, Dickson DW, et al. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol. 2010;20:1069–76.
  • Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IRA. A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain. 2009;132:2922–31.
  • Martinaud O, Laquerrière A, Guyant-Maréchal L, Ahtoy P, Vera P, Sergeant N, et al. Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family. Acta Neuropathol. 2005;110:84–92.
  • Hilton DA, Love S, Ferguson I, Newman P. Motor neuron disease with neurofibrillary tangles in a non-Guamanian patient. Acta Neuropathol. 1995;90:101–6.
  • Kuroda S, Otsuki S, Tateishi J, Hirano A. Neurofibrillary degeneration in a case of quadriplegia and myoclonic movement. Acta Neuropathol. 1979;45:105–9.
  • Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJ, de Belleroche JS. Familial amyotrophic lateral sclerosis with a point mutation of SOD1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. J Neurol Neurosurg Psychiatr. 1995;59:266–70.
  • Piao Y-S, Tan C-F, Iwanaga K, Kakita A, Takano H, Nishizawa M, et al. Sporadic four-repeat tauopathy with frontotemporal degeneration, Parkinsonism and motor neuron disease. Acta Neuropathol. 2005;110:600–9.
  • Yokota O, Tsuchiya K, Oda T, Ishihara T, de Silva R, Lees AJ, et al. Amyotrophic lateral sclerosis with dementia: an autopsy case showing many Bunina bodies, tau-positive neuronal and astrocytic plaque-like pathologies, and pallido-nigral degeneration. Acta Neuropathol. 2006;112: 633–45.
  • Fu Y-J, Nishihira Y, Kuroda S, Toyoshima Y, Ishihara T, Shinozaki M, et al. Sporadic four-repeat tauopathy with frontotemporal lobar degeneration, Parkinsonism, and motor neuron disease: a distinct clinicopathological and biochemical disease entity. Acta Neuropathol. 2010;120: 21–32.
  • Mimuro M, Kokubo Y, Kuzuhara S. Similar topographical distribution of neurofibrillary tangles in amyotrophic lateral sclerosis and Parkinsonism-dementia complex in people living in the Kii peninsula of Japan suggests a single tauopathy. Acta Neuropathol. 2007;113:653–8.
  • Hirano A, Malamud N, Kurland LT. Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features. Brain. 1961;84:662–79.
  • Hirano A, Zimmerman HM. Alzheimer's neurofibrillary changes: a topographic study. Arch Neurol. 1962;7:227–42.
  • Trojanowski JQ, Ishihara T, Higuchi M, Yoshiyama Y, Hong M, Zhang B, et al. Amyotrophic lateral sclerosis/Parkinsonism dementia complex: transgenic mice provide insights into mechanisms underlying a common tauopathy in an ethnic minority on Guam. Exp Neurol. 2002;176: 1–11.
  • Gentleman SM, Perl D, Allsop D, Clinton J, Royston MC, Roberts GW. β(A4)-amyloid protein and Parkinsonian dementia complex of Guam. Lancet. 1991;337:55–6.
  • van Deerlin VM, Gill LH, Farmer JM, Trojanowski JQ, Lee VM-Y. Familial frontotemporal dementia: from gene discovery to clinical molecular diagnostics. Clin Chem. 2003;49:1717–25.
  • van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol. 2008;7:409–16.
  • Luquin N, Yu B, Trent RJ, Morahan JM, Pamphlett R. An analysis of the entire SOD1 gene in sporadic ALS. Neuromuscul Disord. 2008;18:545–52.
  • Brettschneider J, van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9orf72 hexanucleotide expansion. Acta Neuropathol. 2012;123:825–39.
  • Thal DR, Rüb U, Orantes M, Braak H. Phases of A β-deposition in the human brain and its relevance for the development of AD. Neurology. 2002;58:1791–800.
  • Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293–9.
  • Strong M, Grace GM, Freedman M, Lomen-Hoerth C, Woolley S, Goldstein LH, et al. Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:131–46.
  • Ahmed Z, Bigio EH, Budka H, Dickson DW, Ferrer I, Ghetti B, et al. Globular glial tauopathies (GGT): consensus recommendations. Acta Neuropathol. 2013; 126:537–44.
  • Yang W, Sopper MM, Leystra-Lantz C, Strong MJ. Microtubule associated tau protein-positive neuronal and glial inclusions in ALS. Neurology. 2003;61:1766–73.
  • Brettschneider J, Libon DJ, Toledo JB, Xie SX, McCluskey L, Elman L, et al. Microglial activation and TDP-43 pathology correlate with executive dysfunction in amyotrophic lateral sclerosis. Acta Neuropathol. 2012;123: 395–407.
  • Hirano A, Kurland LT, Krooth RS, Lessell S. Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features. Brain. 1961;84:642–61.
  • Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, et al. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 2005;64:1578–85.
  • Ishihara T, Hong M, Zhang B, Nakagawa Y, Lee MK, Trojanowski JQ, et al. Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron. 1999;24: 751–62.
  • Probst A, Götz J, Wiederhold KH, Tolnay M, Mistl C, Jaton AL, et al. Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein. Acta Neuropathol. 2000;99:469–81.
  • Dugger BN, Hidalgo JA, Chiarolanza G, Mariner M, Henry-Watson J, Sue LI, et al. The distribution of phosphorylated tau in spinal cords of Alzheimer's disease and non-demented individuals. J Alzheimers Dis. 2013; 34:529–36.
  • Geser F, Winton MJ, Kwong LK, Xu Y, Xie SX, Igaz LM, et al. Pathological TDP-43 in Parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol. 2008;115:133–45.
  • Saito Y, Murayama S. Expression of tau immunoreactivity in the spinal motor neurons of Alzheimer's disease. Neurology. 2000;55:1727–9.
  • Schmidt ML, Zhukareva V, Perl DP, Sheridan SK, Schuck T, Lee VM, et al. Spinal cord neurofibrillary pathology in Alzheimer's disease and Guam Parkinsonism-dementia complex. J Neuropathol Exp Neurol. 2001;60: 1075–86.
  • Malamud N, Hirano A, Kurland LT. Pathoanatomic changes in amyotrophic lateral sclerosis on Guam. Special reference to the occurrence of neurofibrillary changes. Arch Neurol. 1961;5:401–15.
  • Thal DR, del Tredici K, Ludolph AC, Hoozemans JJM, Rozemuller AJ, Braak H, et al. Stages of granulovacuolar degeneration: their relation to Alzheimer's disease and chronic stress response. Acta Neuropathol. 2011;122: 577–89.
  • Schmidt ML, Lee VM, Saido T, Perl D, Schuck T, Iwatsubo T, et al. Amyloid plaques in Guam amyotrophic lateral sclerosis/Parkinsonism-dementia complex contain species of Aβ similar to those found in the amyloid plaques of Alzheimer's disease and pathological aging. Acta Neuropathol. 1998;95:117–22.
  • Forman MS, Schmidt ML, Kasturi S, Perl DP, Lee VM-Y, Trojanowski JQ. Tau and alpha-synuclein pathology in amygdala of Parkinsonism-dementia complex patients of Guam. Am J Pathol. 2002;160:1725–31.
  • Hasegawa M, Arai T, Akiyama H, Nonaka T, Mori H, Hashimoto T, et al. TDP-43 is deposited in the Guam Parkinsonism-dementia complex brains. Brain. 2007; 130:1386–94.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.