Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein

详细信息    查看全文

• 作者：Naoya Aoki ; Philip J. Boyer ; Cheryl Lund ; Wen-Lang Lin…
• 关键词：Multiple system atrophy ; Frontotemporal lobar degeneration ; Neuropathology ; Pick body ; like inclusions ; α ; Synuclein
• 刊名：Acta Neuropathologica
• 出版年：2015
• 出版时间：July 2015
• 年：2015
• 卷：130
• 期：1
• 页码：93-105
• 全文大小：2,255 KB
• 参考文献：1.Ahmed Z, Asi YT, Sailer A, Lees AJ, Houlden H, Revesz T, Holton JL (2012) The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol 38:4-4PubMed View Article
  2.Beach TG, White CL, Hamilton RL, Duda JE, Iwatsubo T, Dickson DW, Leverenz JB, Roncaroli F, Buttini M, Hladik CL, Sue LI, Noorigian JV, Adler CH (2008) Evaluation of alpha-synuclein immunohistochemical methods used by invited experts. Acta Neuropathol 116:277-88PubMed Central PubMed View Article
  3.Boeve BF, Lang AE, Litvan I (2003) Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. Ann Neurol 54(Suppl 5):S15–S19PubMed View Article
  4.Braak H, Braak E (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 82:239-59PubMed View Article
  5.Duda JE, Giasson BI, Mabon ME, Miller DC, Golbe LI, Lee VM, Trojanowski JQ (2002) Concurrence of alpha-synuclein and tau brain pathology in the Contursi kindred. Acta Neuropathol 104:7-1PubMed View Article
  6.Fanciulli A, Wenning GK (2015) Multiple-system atrophy. N Engl J Med 372:249-63PubMed View Article
  7.Fujishiro H, Imamura AY, Lin WL, Uchikado H, Mark MH, Golbe LI, Markopoulou K, Wszolek ZK, Dickson DW (2013) Diversity of pathological features other than Lewy bodies in familial Parkinson’s disease due to SNCA mutations. Am J Neurodegener Dis 2:266-75PubMed Central PubMed
  8.Gai WP, Power JH, Blumbergs PC, Blessing WW (1998) Multiple-system atrophy: a new alpha-synuclein disease? Lancet 352:547-48PubMed View Article
  9.Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, Wood NW, Colosimo C, Durr A, Fowler CJ, Kaufmann H, Klockgether T, Lees A, Poewe W, Quinn N, Revesz T, Robertson D, Sandroni P, Seppi K, Vidailhet M (2008) Second consensus statement on the diagnosis of multiple system atrophy. Neurology 71:670-76PubMed Central PubMed View Article
  10.Graham JG, Oppenheimer DR (1969) Orthostatic hypotension and nicotine sensitivity in a case of multiple system atrophy. J Neurol Neurosurg Psychiatry 32:28-4PubMed Central PubMed View Article
  11.Grossman M (2010) Primary progressive aphasia: clinicopathological correlations. Nat Rev Neurol 6:88-7PubMed Central PubMed View Article
  12.Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW (2000) Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol 99:663-72PubMed View Article
  13.Horoupian DS, Dickson DW (1991) Striatonigral degeneration, olivopontocerebellar atrophy and “atypical-Pick disease. Acta Neuropathol 81:287-95PubMed View Article
  14.Ishizawa T, Mattila P, Davies P, Wang D, Dickson DW (2003) Colocalization of tau and alpha-synuclein epitopes in Lewy bodies. J Neuropathol Exp Neurol 62:389-97PubMed
  15.Josephs KA, Hodges JR, Snowden JS, Mackenzie IR, Neumann M, Mann DM, Dickson DW (2011) Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol 122:137-53PubMed Central PubMed View Article
  16.Katayama T, Yamaoka A, Yokokawa Y, Saito Y, Aiba L, Yasuda T, Yoshida M, Hashizume Y (2000) An autopsy case of multiple system atrophy (MSA) with marked temporal lobe atrophy and numerous Pick bodylike inclusions. Neuropathology 20:A29
  17.Kato S, Nakamura H (1990) Cytoplasmic argyrophilic inclusions in neurons of pontine nuclei in patients with olivopontocerebellar atrophy: immunohistochemical and ultrastructural studies. Acta Neuropathol 79:584-94PubMed View Article
  18.Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL (2013) alpha-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy? Acta Neuropathol 125:753-69PubMed Central PubMed View Article
  19.Konagaya M, Sakai M, Yoshida M, Hashizume Y (2006) An autopsy case of long-course multiple system atrophy (MSA) with remarkable atrophy and numerous NCI in the temporal lobe. No To Shinkei 58:430-37PubMed
  20.Kouri N, Whitwell JL, Josephs KA, Rademakers R, Dickson DW (2011) Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat Rev Neurol 7:263-72PubMed View Article
  21.Lantos PL (1998) The definition of multiple system atrophy: a review of recent developments. J Neuropathol Exp Neurol 57:1099-111PubMed View Article
  22.Lasagna-Reeves CA, Castillo-Carranza DL, Guerrero-Muoz MJ, Jackson GR, Kayed R (2010) Preparation and characterization of neurotoxic tau oligomers. Biochemistry 49:10039-0041PubMed View Article
  23.Lin WL, DeLucia MW, Dickson DW (2004) Alpha-synuclein immunoreactivity in neuronal nuclear inclusions and neurites in multiple system atrophy. Neurosci Lett 354:99-02PubMed View Article
  24.Mackenzie IR, Neumann M, Baborie A, Sampathu DM, Du Plessis D, Jar
• 作者单位：Naoya Aoki (1)
  Philip J. Boyer (2)
  Cheryl Lund (3)
  Wen-Lang Lin (1)
  Shunsuke Koga (1)
  Owen A. Ross (1)
  Myron Weiner (4)
  Anne Lipton (4)
  James M. Powers (5)
  Charles L. White III (6)
  Dennis W. Dickson (1)
  
  1. Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA
  2. Department of Pathology, University of Colorado, Denver, CO, USA
  3. Department of Anesthesiology, Venice Regional Hospital, Venice, FL, USA
  4. Department of Psychiatry and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA
  5. Department of Pathology, University of Rochester Medical Center, Rochester, NY, USA
  6. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Pathology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0533

文摘

Multiple system atrophy (MSA) is a sporadic neurodegenerative disease clinically characterized by cerebellar signs, parkinsonism, and autonomic dysfunction. Pathologically, MSA is an α-synucleinopathy affecting striatonigral and olivopontocerebellar systems, while neocortical and limbic involvement is usually minimal. In this study, we describe four patients with atypical MSA with clinical features consistent with frontotemporal dementia (FTD), including two with corticobasal syndrome, one with progressive non-fluent aphasia, and one with behavioral variant FTD. None had autonomic dysfunction. All had frontotemporal atrophy and severe limbic α-synuclein neuronal pathology. The neuronal inclusions were heterogeneous, but included Pick body-like inclusions. The latter were strongly associated with neuronal loss in the hippocampus and amygdala. Unlike typical Pick bodies, the neuronal inclusions were positive on Gallyas silver stain and negative on tau immunohistochemistry. In comparison to 34 typical MSA cases, atypical MSA had significantly more neuronal inclusions in anteromedial temporal lobe and limbic structures. While uncommon, our findings suggest that MSA may present clinically and pathologically as a frontotemporal lobar degeneration (FTLD). We suggest that this may represent a novel subtype of FTLD associated with α-synuclein (FTLD-synuclein).