Pathology in primary progressive aphasia syndromes

Current Neurology and Neuroscience Reports

Volumn 14, Issue 8, 2014, Pages

  Harris, Jennifer M ^a,b   Jones, Matthew ^a,b  

^a SALFORD ROYAL NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Alzheimer's disease; Frontotemporal lobar degeneration; Pathology; Primary progressive aphasia; Progressive nonfluent aphasia; Semantic dementia

Indexed keywords

ALZHEIMER DISEASE; ARTICLE; BEHAVIOR DISORDER; BRAIN ATROPHY; COGNITIVE DEFECT; DISEASE CLASSIFICATION; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LOGOPENIC VARIANT PRIMARY PROGRESSIVE APHASIA; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROPATHOLOGY; NONFLUENT VARIANT PRIMARY PROGRESSIVE APHASIA; PRIMARY PROGRESSIVE APHASIA; SEMANTIC DEMENTIA; SEMANTIC VARIANT PRIMARY PROGRESSIVE APHASIA; CLASSIFICATION; PATHOLOGY; PATHOPHYSIOLOGY;

APHASIA, PRIMARY PROGRESSIVE; HUMANS;

EID: 84902709476     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-014-0466-4     Document Type: Article

References (100)

1. Pick A. Über die Beziehungen der senilen Hirnatrophie zur Aphasie. Prager Med Wochenschr. 1892;17:165-7.
2. Pick A. Zur Symptomatologie der linksseitigen Schlafenlappenatrophie. Monatsschr Psychiatr Neurol. 1904;16: 378-88.
3. Sérieux P. Sur un cas de surdite verbale pure. Rev Med Paris. 1893;13:733-50.
4. Mesulam M. Primary progressive aphasia - differentiation from Alzheimer's disease. Ann Neurol. 1987;22(4):533-4. (Pubitemid 17164778)
5. Mesulam M. Slowly progressive aphasia without generalized dementia. Ann Neurol. 1982;11(6):592-8. (Pubitemid 12116420)
6. Neary D, Snowden J, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51(6):1546-54.
7. Thompson SA, Patterson K, Hodges JR. Left/right asymmetry of atrophy in semantic dementia: behavioral-cognitive implications. Neurology. 2003;61(9):1196-203. (Pubitemid 37377537)
8. Snowden J, Thompson JC, Neary D. Knowledge of famous faces and names in semantic dementia. Brain. 2004;127(4): 860-72. (Pubitemid 38478531)
9. Mesulam M, Wicklund A, Johnson N, et al. Alzheimer and frontotemporal pathology in subsets of primary progressive aphasia. Ann Neurol. 2008;63(6):709-19. (Pubitemid 351945530)
10. Greene JD, Patterson K, Xuereb J, et al. Alzheimer disease and nonfluent progressive aphasia. Arch Neurol. 1996;53(10):1072-8. (Pubitemid 26340045)
11. Knibb JA, Xuereb JH, Patterson K, et al. Clinical and pathological characterization of progressive aphasia. Ann Neurol. 2006;59(1): 156-65. (Pubitemid 43042882)
12. Rogalski E, Mesulam M. An update on primary progressive aphasia. Curr Neurol Neurosci Rep. 2007;7(5):388-92. (Pubitemid 47422780)
13. Josephs KA, Whitwell JL, Duffy JR, et al. Progressive aphasia secondary to Alzheimer disease vs FTLD pathology. Neurology. 2008;70(1):25-34.
14. Alladi S, Xuereb J, Bak T, et al. Focal cortical presentations of Alzheimer's disease. Brain. 2007;130(10):2636-45. (Pubitemid 47511719)
15. Galton CJ, Patterson K, Xuereb JH, et al. Atypical and typical presentations of Alzheimer's disease: a clinical, neuropsychological, neuroimaging and pathological study of 13 cases. Brain. 2000;123(3):484-98. (Pubitemid 30099534)
16. Kertesz A, McMonagle P, Blair M, et al. The evolution and pathology of frontotemporal dementia. Brain. 2005;128(9): 1996-2005. (Pubitemid 41253267)
17. • Gorno-Tempini ML, Hillis AE, Weintraub S, et al. Classification of primary progressive aphasia and its variants. Neurology. 2011;76(11)):1006-14. This article describes the most up to date classification system for PPA and is of particular significance because no assumptions are made regarding the relationship between aphasia subtype and pathological disease.
18. Mesulam M. Primary progressive aphasia - a language-based dementia. N Engl J Med. 2003;349(16):1535-42. (Pubitemid 37255040)
19. Mesulam M. Primary progressive aphasia pathology. Ann Neurol. 2008;63(1):124-5.
20. Kirshner HS, Tanridag O, Thurman L, et al. Progressive aphasia without dementia: two cases with focal spongiform degeneration. Ann Neurol. 1987;22(4):527-32. (Pubitemid 17164777)
21. Mackenzie IR, Baborie A, Pickering-Brown S, et al. Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype. Acta Neuropathol. 2006;112(5):539-49. (Pubitemid 44550678)
22. Sampathu DM, Neumann M, Kwong LK, et al. Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol. 2006;169(4):1343-52. (Pubitemid 351194368)
23. Mackenzie IR, Neumann M, Baborie A, et al. A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. 2011;122(1):111-3.
24. • Mesulam MM, Weintraub S, Rogalski EJ, et al. Asymmetry and heterogeneity of Alzheimer's and frontotemporal pathology in primary progressive aphasia. Brain. 2014;137(4):1176-92. This article closely examines pathological postmortem diagnosis and the topographical distribution of pathological changes in a series of PPA patients.
25. Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. 1991;82(4):239-59.
26. Neary D, Snowden J, Mann DM, et al. Alzheimer's disease: a correlative study. J Neurol Neurosurg Psychiatry. 1986;49(3): 229-37. (Pubitemid 16124257)
27. Arriagada PV, Marzloff K, Hyman BT. Distribution of Alzheimertype pathologic changes in nondemented elderly individuals matches the pattern in Alzheimer's disease. Neurology. 1992;42(9):1681-8.
28. Hof PR, Vogt BA, Bouras C, et al. Atypical form of Alzheimer's disease with prominent posterior cortical atrophy: a review of lesion distribution and circuit disconnection in cortical visual pathways. Vis Res. 1997;37(24):3609-25. (Pubitemid 27491638)
29. Johnson JK, Head E, Kim R, et al. Clinical and pathological evidence for a frontal variant of Alzheimer disease. Arch Neurol. 1999;56(10):1233-9. (Pubitemid 29473215)
30. Guillozet AL, Weintraub S, Mash DC, et al. Neurofibrillary tangles, amyloid, and memory in aging and mild cognitive impairment. Arch Neurol. 2003;60(5):729-36. (Pubitemid 36569891)
31. Whitwell JL, Josephs KA, Murray ME, et al. MRI correlates of neurofibrillary tangle pathology at autopsy: a voxel-based morphometry study. Neurology. 2008;71(10):743-9.
32. Whitwell JL, Dickson DW, Murray ME, et al. Neuroimaging correlates of pathologically defined subtypes of Alzheimer's disease: a case-control study. Lancet Neurol. 2012;11(10):868-77.
33. Gefen T, Gasho K, Rademaker A, et al. Clinically concordant variations of Alzheimer pathology in aphasic versus amnestic dementia. Brain. 2012;135(5):1554-65.
34. Josephs KA, Dickson DW, Murray ME, et al. Quantitative neurofibrillary tangle density and brain volumetric MRI analyses in Alzheimer's disease presenting as logopenic progressive aphasia. Brain Lang. 2013;127(2):127-34.
35. Adlam AL, Patterson K, Rogers TT, et al. Semantic dementia and fluent primary progressive aphasia: two sides of the same coin? Brain. 2006;129(11):3066-80. (Pubitemid 44684526)
36. Mummery CJ, Patterson K, Price CJ, et al. A voxel-based morphometry study of semantic dementia: relationship between temporal lobe atrophy and semantic memory. Ann Neurol. 2000;47(1):36-45. (Pubitemid 30033648)
37. Gorno-Tempini ML, Dronkers NF, Rankin KP, et al. Cognition and anatomy in three variants of primary progressive aphasia. Ann Neurol. 2004;55(3):335-46. (Pubitemid 38269585)
38. Rosen HJ, Kramer JH, Gorno-Tempini ML, et al. Patterns of cerebral atrophy in primary progressive aphasia. Am J Geriatr Psychiatry. 2002;10(1):89-97. (Pubitemid 34052907)
39. Galton CJ, Patterson K, Graham K, et al. Differing patterns of temporal atrophy in Alzheimer's disease and semantic dementia. Neurology. 2001;57(2):216-25. (Pubitemid 32667354)
40. Chan D, Fox NC, Scahill RI, et al. Patterns of temporal lobe atrophy in semantic dementia and Alzheimer's disease. Ann Neurol. 2001;49(4):433-42. (Pubitemid 32281327)
41. • Harris JM, Gall C, Thompson JC, et al. Classification and pathology of primary progressive aphasia. Neurology. 2013;81(21)): 1832-9. This article examines the relationship between pathological postmortem diagnosis and clinical classification of progressive aphasia using the most recent classification recommendations.
42. Rohrer JD, Lashley T, Schott JM, et al. Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain. 2011;134(9):2565-81.
43. Hodges JR, Mitchell J, Dawson K, et al. Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases. Brain. 2010;133(1):300-6.
44. Grossman M. Primary progressive aphasia: clinicopathological correlations. Nat Rev Neurol. 2010;6(2):88-97.
45. Hodges JR, Davies RR, Xuereb JH, et al. Clinicopathological correlates in frontotemporal dementia. Ann Neurol. 2004;56(3): 399-406. (Pubitemid 39166559)
46. Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology. 1998;50(6):1541-5. (Pubitemid 28283216)
47. Josephs KA, Hodges JR, Snowden JS, et al. Neuropathological background of phenotypical variability in frontotemporal dementia. Acta Neuropathol. 2011;122(2):137-53.
48. Tyrrell PJ, Kartsounis LD, Frackowiak RS, et al. Progressive loss of speech output and orofacial dyspraxia associated with frontal lobe hypometabolism. J Neurol Neurosurg Psychiatry. 1991;54(4):351-7.
49. Josephs KA, Duffy JR, Strand EA, et al. Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain. 2006;129(6):1385-98. (Pubitemid 43999372)
50. Snowden J, Thompson JC, Stopford CL, et al. The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships. Brain. 2011;134(9):2478-92.
51. Snowden J, Neary D, Mann DM, et al. Progressive language disorder due to lobar atrophy. Ann Neurol. 1992;31(2):174-83.
52. Grossman M, Mickanin J, Onishi K, et al. Progressive nonfluent aphasia: language, cognitive, and PET measures contrasted with probable Alzheimer's disease. J Cogn Neurosci. 1996;8(2):135-54. (Pubitemid 26112532)
53. Caselli RJ, Jack Jr CR. Asymmetric cortical degeneration syndromes. A proposed clinical classification. Arch Neurol. 1992;49(7):770-80.
54. 133xenon inhalation, technetium 99 m hexamethylpropyleneamine oxime and single photon emission computerized tomography. Brain. 1990;113(5):1395-404.
55. Caso F, Mandelli ML, Henry M, et al. In vivo signatures of nonfluent/agrammatic primary progressive aphasia caused by FTLD pathology. Neurology. 2014;82(3):239-47.
56. Nestor PJ, Graham NL, Fryer TD, et al. Progressive non-fluent aphasia is associated with hypometabolism centred on the left anterior insula. Brain. 2003;126(11):2406-18. (Pubitemid 37314431)
57. Kobylecki C, Thompson JC, Jones M, et al. Sporadic Creutzfeldt-Jakob disease presenting as progressive nonfluent aphasia with speech apraxia. Alzheimer Dis Assoc Disord. 2013;27(4):384-6.
58. Josephs KA, Duffy JR, Strand EA, et al. Characterizing a neurodegenerative syndrome: primary progressive apraxia of speech. Brain. 2012;135(5):1522-36.
59. Mesulam M, Johnson N, Krefft TA, et al. Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. Arch Neurol. 2007;64(1):43-7. (Pubitemid 46072422)
60. Leverenz JB, Yu CE, Montine TJ, et al. A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain. 2007;130(5):1360-74. (Pubitemid 47355959)
61. Snowden J, Pickering-Brown SM, Mackenzie IR, et al. Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain. 2006;129(11): 3091-102. (Pubitemid 44684528)
62. Snowden JS, Pickering-Brown SM, Du Plessis D, et al. Progressive anomia revisited: focal degeneration associated with progranulin gene mutation. Neurocase. 2007;13(5): 366-77.
63. Beck J, Rohrer JD, Campbell T, et al. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain. 2008;131(3):706-20. (Pubitemid 351294713)
64. Le Ber I, Camuzat A, Hannequin D, et al. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008;131(3):732-46. (Pubitemid 351294727)
65. Rohrer JD, Warren JD, Barnes J, et al. Mapping the progression of progranulin-associated frontotemporal lobar degeneration. Nat Clin Pract Neurol. 2008;4(8):455-60.
66. Kelley BJ, Haidar W, Boeve BF, et al. Prominent phenotypic variability associated with mutations in progranulin. Neurobiol Aging. 2009;30(5):739-51.
67. Mahoney CJ, Beck J, Rohrer JD, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain. 2012;135(3):736-50.
68. Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain. 2012;135(3):693-708.
69. Hodges JR, Patterson K. Nonfluent progressive aphasia and semantic dementia: a comparative neuropsychological study. J Int Neuropsychol Soc. 1996;2(6):511-24. (Pubitemid 126449817)
70. Gorno-Tempini ML, Brambati SM, Ginex V, et al. The logopenic/phonological variant of primary progressive aphasia. Neurology. 2008;71(16):1227-34.
71. Mesulam M, Wieneke C, Rogalski E, et al. Quantitative template for subtyping primary progressive aphasia. Arch Neurol. 2009;66(12):1545-51.
72. Henry ML, Gorno-Tempini ML. The logopenic variant of primary progressive aphasia. Curr Opin Neurol. 2010;23(6):633-7.
73. Rabinovici GD, Miller BL. Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management. CNS Drugs. 2010;24(5):375-98.
74. Teichmann M, Kas A, Boutet C, et al. Deciphering logopenic primary progressive aphasia: a clinical, imaging and biomarker investigation. Brain. 2013;136(11):3474-88.
75. Hu WT, McMillan C, Libon D, et al. Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia. Neurology. 2010;75(7):595-602.
76. Leyton CE, Villemagne VL, Savage S, et al. Subtypes of progressive aphasia: application of the international consensus criteria and validation using β-amyloid imaging. Brain. 2011;134(10):3030-43.
77. Rabinovici GD, Jagust WJ, Furst AJ, et al. Aβ amyloid and glucose metabolism in three variants of primary progressive aphasia. Ann Neurol. 2008;64(4):388-401.
78. Rabinovici GD, Rosen HJ, Alkalay A, et al. Amyloid vs FDG-PET in the differential diagnosis of AD and FTLD. Neurology. 2011;77(23):2034-42.
79. Itabashi S, Arai H, Higuchi S, et al. APOE epsilon 4 allele in Alzheimer's and non-Alzheimer's dementias. Lancet. 1996;348(9032):960-1. (Pubitemid 26333861)
80. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993;43(8):1467-72. (Pubitemid 23230526)
81. Rogalski E, Cobia D, Harrison TM, et al. Progression of language decline and cortical atrophy in subtypes of primary progressive aphasia. Neurology. 2011;76(21):1804-10.
82. Rogalski EJ, Rademaker A, Harrison TM, et al. ApoE E4 is a susceptibility factor in amnestic but not aphasic dementias. Alzheimer Dis Assoc Disord. 2011;25(2):159-63.
83. Mesulam M, Wieneke C, Thompson C, et al. Quantitative classification of primary progressive aphasia at early and mild impairment stages. Brain. 2012;135(5):1537-53.
84. Wicklund MR, Duffy JR, Strand EA, et al. Quantitative application of the primary progressive aphasia consensus criteria. Neurology. 2014;82(13):1119-26.
85. Sajjadi SA, Patterson K, Arnold RJ, et al. Primary progressive aphasia: a tale of two syndromes and the rest. Neurology. 2012;78(21):1670-7.
86. Rohrer JD, Crutch SJ, Warrington EK, et al. Progranulin-associated primary progressive aphasia: a distinct phenotype? Neuropsychologia. 2010;48(1):288-97.
87. Pickering-Brown SM, Rollinson S, Du Plessis D, et al. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain. 2008;131(3):721-31. (Pubitemid 351294717)
88. Josephs KA, Duffy JR, Strand EA, et al. Progranulin-associated PiB-negative logopenic primary progressive aphasia. J Neurol. 2014;261(3):604-14.
89. Sajjadi SA, Patterson K, Nestor PJ. Logopenic, mixed, or Alzheimer-related aphasia? Neurology. 2014;82(13):1127-31.
90. Mesulam MM, Weintraub S. Is it time to revisit the classification guidelines for primary progressive aphasia? Neurology. 2014;82(13):1108-9.
91. Xiong L, Xuereb JH, Spillantini MG, et al. Clinical comparison of progressive aphasia associated with Alzheimer versus FTD-spectrum pathology. J Neurol Neurosurg Psychiatry. 2011;82(3): 254-60.
92. Deramecourt V, Lebert F, Debachy B, et al. Prediction of pathology in primary progressive language and speech disorders. Neurology. 2010;74(1):42-9.
93. Doran M, Xuereb J, Hodges JR. Rapidly progressive aphasia with bulbar motor neurone disease: a clinical and neuropsychological study. Behav Neurol. 1995;8:169-80. (Pubitemid 26011312)
94. Caselli RJ, Windebank AJ, Petersen RC, et al. Rapidly progressive aphasic dementia and motor neuron disease. Ann Neurol. 1993;33(2):200-7. (Pubitemid 23039929)
95. Tsuchiya K, Ozawa E, Fukushima J, et al. Rapidly progressive aphasia and motor neuron disease: a clinical, radiological, and pathological study of an autopsy case with circumscribed lobar atrophy. Acta Neuropathol. 2000;99(1):81-7. (Pubitemid 30093443)
96. Davies RR, Hodges JR, Kril JJ, et al. The pathological basis of semantic dementia. Brain. 2005;128(9):1984-95. (Pubitemid 41253266)
97. Kim SH, Seo SW, Go SM, et al. Semantic dementia combined with motor neuron disease. J Clin Neurosci. 2009;16(12):1683-5.
98. Yokota O, Tsuchiya K, Itoh Y, et al. Frontotemporal lobar degeneration with ubiquitin pathology: an autopsy case presenting with semantic dementia and upper motor neuron signs with a clinical course of 19 years. Acta Neuropathol. 2006;112(6):739-49. (Pubitemid 44615034)
99. Josephs KA, Petersen RC, Knopman DS, et al. Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. Neurology. 2006;66(1):41-8. (Pubitemid 43739589)
100. Yokota O, Tsuchiya K, Arai T, et al. Clinicopathological characterization of Pick's disease versus frontotemporal lobar degeneration with ubiquitin/TDP-43-positive inclusions. Acta Neuropathol. 2009;117(4):429-44.