Alzheimer's Disease Including Focal Presentations

Nicolas Villain; Bruno Dubois

doi:10.1055/s-0039-1681041

Seminars in Neurology, Table of Contents

Semin Neurol 2019; 39(02): 213-226
DOI: 10.1055/s-0039-1681041

Review Article

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Alzheimer's Disease Including Focal Presentations

Nicolas Villain

¹Alzheimer Precision Medicine, Sorbonne Université, Paris, France

²Department of Neurology, Institute of Memory and Alzheimer's Disease, Assistance Publique - Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France

³Institut du Cerveau et de la Moëlle Epinière, Paris, France

,

Bruno Dubois

²Department of Neurology, Institute of Memory and Alzheimer's Disease, Assistance Publique - Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, France

³Institut du Cerveau et de la Moëlle Epinière, Paris, France

› Author Affiliations

Abstract

Alzheimer's disease (AD) is the commonest neurodegenerative disease and the most frequent cause of dementia. It affects 30 million people worldwide. Current research criteria focus on biomarkers' status for amyloid and tau using positron emission tomography and cerebrospinal fluid analysis, independent of clinical status. Current epidemiological data, which mostly rely on biomarker-undetermined AD cases, have highlighted ApoE4 and age as the main risk factors. Rare autosomal dominant mutations also account for a small fraction of early-onset AD. The main clinical phenotype at presentation is the amnestic phenotype targeting episodic memory. This is followed by rarer phenotypes such as posterior cortical atrophy, logopenic variant of primary progressive aphasia, frontal variant AD, corticobasal syndrome, and other even rarer presentations mimicking language variants of frontotemporal dementia. Main differential diagnoses include hippocampal sclerosis with TDP-43, primary age-related tauopathy, argyrophilic grain disease, frontotemporal lobar degeneration, Lewy body disease, chronic traumatic encephalopathy as well as nondegenerative disorders such as cerebrovascular disease, chronic alcohol consumption, limbic encephalitis, medial temporal lobe epilepsy, and others. Co-occurrence of AD pathology with other neurodegenerative and vascular diseases is common and increases with age. This presents a challenge in current clinical practice due to a lack of reliable biomarkers for non-AD neurodegenerative diseases.

Keywords

Alzheimer's disease - diagnosis - CSF - epidemiology - dementia

Full Text

References

References
1 Alzheimer A. Über eine eigenartige Erkrankung der Hirnrinde. Allg Zeitschrift fur Psychiatr und Psych Medizin 1907; 64: 146-148
2 Alzheimer A, Stelzmann RA, Schnitzlein HN, Murtagh FR. An English translation of Alzheimer's 1907 paper, “Uber eine eigenartige Erkankung der Hirnrinde”. Clin Anat 1995; 8 (06) 429-431
3 Kraepelin E. Psychiatrie. Ein Lehrbuch Für Studierende Und Ärzte. II. Bd., Klinische Psychiatrie. 8. Auflage. Leipzig: Barth; 1910
4 Boller F. History of dementia. Handb Clin Neurol 2008; 89: 3-13
5 Hyman BT, Phelps CH, Beach TG. , et al. National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease. Alzheimers Dement 2012; 8 (01) 1-13
6 Fischer O. Miliare Nekrosen mit drusigen Wucherungen der Neurofibrillen, eine regelmässige Veränderung der Hirnrinde bei seniler Demenz. Monatsschr Psychiatr Neurol 1907; 22: 361-372
7 Amaducci LA, Rocca WA, Schoenberg BS. Origin of the distinction between Alzheimer's disease and senile dementia: how history can clarify nosology. Neurology 1986; 36 (11) 1497-1499
8 Holstein M. Alzheimer's disease and senile dementia, 1885–1920: an interpretive history of disease negotiation. J Aging Stud 1997; 11 (01) 1-13
9 Goedert M, Ghetti B. Alois Alzheimer: his life and times. Brain Pathol 2007; 17 (01) 57-62
10 Alzheimer A. Über eigenartige Krankheitsfälle des späteren Alters. Zbl Ges Neurol Psych 1911; 4: 356-385
11 Katzman R, Terry R, Bick K. , eds. Alzheimer's Disease: Senile Dementia and Related Disorders. New York, NY: Raven Press; 1978
12 McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34 (07) 939-944
13 Reisberg B, Ferris SH, de Leon MJ. , et al. Stage-specific behavioral, cognitive, and in vivo changes in community residing subjects with age-associated memory impairment and primary degenerative dementia of the Alzheimer type. Drug Dev Res 1988; 15 (2–3): 101-114
14 Petersen RC, Smith GE, Waring SC, Ivnik RJ, Tangalos EG, Kokmen E. Mild cognitive impairment: clinical characterization and outcome. Arch Neurol 1999; 56 (03) 303-308
15 Petersen RC, Doody R, Kurz A. , et al. Current concepts in mild cognitive impairment. Arch Neurol 2001; 58 (12) 1985-1992
16 Petersen RC. Mild cognitive impairment as a diagnostic entity. J Intern Med 2004; 256 (03) 183-194
17 Jicha GA, Parisi JE, Dickson DW. , et al. Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Arch Neurol 2006; 63 (05) 674-681
18 Beach TG, Monsell SE, Phillips LE, Kukull W. Accuracy of the clinical diagnosis of Alzheimer disease at National Institute on Aging Alzheimer Disease Centers, 2005-2010. J Neuropathol Exp Neurol 2012; 71 (04) 266-273
19 Dubois B, Albert ML. Amnestic MCI or prodromal Alzheimer's disease?. Lancet Neurol 2004; 3 (04) 246-248
20 Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991; 82 (04) 239-259
21 Delacourte A, David JP, Sergeant N. , et al. The biochemical pathway of neurofibrillary degeneration in aging and Alzheimer's disease. Neurology 1999; 52 (06) 1158-1165
22 Thal DR, Rüb U, Orantes M, Braak H. Phases of A beta-deposition in the human brain and its relevance for the development of AD. Neurology 2002; 58 (12) 1791-1800
23 Sarazin M, Chauviré V, Gerardin E. , et al. The amnestic syndrome of hippocampal type in Alzheimer's disease: an MRI study. J Alzheimers Dis 2010; 22 (01) 285-294
24 Fouquet M, Desgranges B, La Joie R. , et al. Role of hippocampal CA1 atrophy in memory encoding deficits in amnestic mild cognitive impairment. Neuroimage 2012; 59 (04) 3309-3315
25 Hampel H, Bürger K, Teipel SJ, Bokde ALW, Zetterberg H, Blennow K. Core candidate neurochemical and imaging biomarkers of Alzheimer's disease. Alzheimers Dement 2008; 4 (01) 38-48
26 Lista S, Garaci FG, Ewers M. , et al. CSF Aβ1-42 combined with neuroimaging biomarkers in the early detection, diagnosis and prediction of Alzheimer's disease. Alzheimers Dement 2014; 10 (03) 381-392
27 Lista S, Zetterberg H, Dubois B, Blennow K, Hampel H. Cerebrospinal fluid analysis in Alzheimer's disease: technical issues and future developments. J Neurol 2014; 261 (06) 1234-1243
28 Dubois B, Feldman HH, Jacova C. , et al. Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria. Lancet Neurol 2007; 6 (08) 734-746
29 Jack Jr CRJ, Albert MS, Knopman DS. , et al. Introduction to the recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7 (03) 257-262
30 Dubois B, Feldman HH, Jacova C. , et al. Revising the definition of Alzheimer's disease: a new lexicon. Lancet Neurol 2010; 9 (11) 1118-1127
31 Jack Jr CR, Knopman DS, Jagust WJ. , et al. Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade. Lancet Neurol 2010; 9 (01) 119-128
32 Hardy JA, Higgins GA. Alzheimer's disease: the amyloid cascade hypothesis. Science 1992; 256 (5054): 184-185
33 Sperling RA, Aisen PS, Beckett LA. , et al. Toward defining the preclinical stages of Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7 (03) 280-292
34 Reiman EM, Chen K, Alexander GE. , et al. Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. Proc Natl Acad Sci U S A 2004; 101 (01) 284-289
35 Reiman EME, Caselli RJ, Yun LS. , et al. Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. N Engl J Med 1996; 334 (12) 752-758
36 Risacher SL, Saykin AJ, West JD, Shen L, Firpi HA, McDonald BC. ; Alzheimer's Disease Neuroimaging Initiative (ADNI). Baseline MRI predictors of conversion from MCI to probable AD in the ADNI cohort. Curr Alzheimer Res 2009; 6 (04) 347-361
37 Dubois B, Feldman HH, Jacova C. , et al. Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet Neurol 2014; 13 (06) 614-629
38 Dubois B, Hampel H, Feldman HH. , et al; Proceedings of the Meeting of the International Working Group (IWG) and the American Alzheimer's Association on “The Preclinical State of AD”; July 23, 2015; Washington DC, USA. Preclinical Alzheimer's disease: definition, natural history, and diagnostic criteria. Alzheimers Dement 2016; 12 (03) 292-323
39 Jack Jr CR, Bennett DA, Blennow K. , et al; Contributors. NIA-AA Research Framework: toward a biological definition of Alzheimer's disease. Alzheimers Dement 2018; 14 (04) 535-562
40 Braak H, Thal DR, Ghebremedhin E, Del Tredici K. Stages of the pathologic process in Alzheimer disease: age categories from 1 to 100 years. J Neuropathol Exp Neurol 2011; 70 (11) 960-969
41 Jack Jr CR, Knopman DS, Jagust WJ. , et al. Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers. Lancet Neurol 2013; 12 (02) 207-216
42 Sperling R, Mormino E, Johnson K. The evolution of preclinical Alzheimer's disease: implications for prevention trials. Neuron 2014; 84 (03) 608-622
43 Kametani F, Hasegawa M. Reconsideration of amyloid hypothesis and tau hypothesis in Alzheimer's disease. Front Neurosci 2018; 12: 25
44 Chételat G. Reply: the amyloid cascade is not the only pathway to AD. Nat Rev Neurol 2013; 9 (06) 356
45 Crary JF, Trojanowski JQ, Schneider JA. , et al. Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol 2014; 128 (06) 755-766
46 McKhann GM, Knopman DS, Chertkow H. , et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7 (03) 263-269
47 Alzheimer's Disease International. World Alzheimer Report 2009. Available at: https://www.alz.co.uk/research/files/WorldAlzheimerReport.pdf . Accessed February 8, 2019
48 de Leon MJ, Pirraglia E, Osorio RS. , et al; Alzheimer's Disease Neuroimaging Initiative; National Alzheimer's Coordinating Center. The nonlinear relationship between cerebrospinal fluid Aβ42 and tau in preclinical Alzheimer's disease. PLoS One 2018; 13 (02) e0191240
49 Falcon C, Tucholka A, Monté-Rubio GC. , et al; Alzheimer's Disease Neuroimaging Initiative. Longitudinal structural cerebral changes related to core CSF biomarkers in preclinical Alzheimer's disease: a study of two independent datasets. Neuroimage Clin 2018; 19 (April): 190-201
50 Sutphen CL, Jasielec MS, Shah AR. , et al. Longitudinal cerebrospinal fluid biomarker changes in preclinical Alzheimer disease during middle age. JAMA Neurol 2015; 72 (09) 1029-1042
51 Rabinovici GD, Carrillo MC, Forman M. , et al. Multiple comorbid neuropathologies in the setting of Alzheimer's disease neuropathology and implications for drug development. Alzheimers Dement (N Y) 2016; 3 (01) 83-91
52 Schneider JA, Arvanitakis Z, Bang W, Bennett DA. Mixed brain pathologies account for most dementia cases in community-dwelling older persons. Neurology 2007; 69 (24) 2197-2204
53 Pierce AL, Bullain SS, Kawas CH. Late-onset Alzheimer disease. Neurol Clin 2017; 35 (02) 283-293
54 Robinson JL, Lee EB, Xie SX. , et al. Neurodegenerative disease concomitant proteinopathies are prevalent, age-related and APOE4-associated. Brain 2018; 141 (07) 2181-2193
55 Yokota O, Miki T, Ikeda C. , et al. Neuropathological comorbidity associated with argyrophilic grain disease. Neuropathology 2018; 38 (01) 82-97
56 Chung EJ, Babulal GM, Monsell SE, Cairns NJ, Roe CM, Morris JC. Clinical features of Alzheimer disease with and without Lewy bodies. JAMA Neurol 2015; 72 (07) 789-796
57 Josephs KA, Dickson DW, Tosakulwong N. , et al. Rates of hippocampal atrophy and presence of post-mortem TDP-43 in patients with Alzheimer's disease: a longitudinal retrospective study. Lancet Neurol 2017; 16 (11) 917-924
58 Fujino Y, Wang D-S, Thomas N, Espinoza M, Davies P, Dickson DW. Increased frequency of argyrophilic grain disease in Alzheimer disease with 4R tau-specific immunohistochemistry. J Neuropathol Exp Neurol 2005; 64 (03) 209-214
59 Toledo JB, Cairns NJ, Da X. , et al; Alzheimer's Disease Neuroimaging Initiative (ADNI). Clinical and multimodal biomarker correlates of ADNI neuropathological findings. Acta Neuropathol Commun 2013; 1 (01) 65
60 Liu E, Schmidt ME, Margolin R. , et al; Bapineuzumab 301 and 302 Clinical Trial Investigators. Amyloid-β 11C-PiB-PET imaging results from 2 randomized bapineuzumab phase 3 AD trials. Neurology 2015; 85 (08) 692-700
61 Hampel H, Toschi N, Babiloni C. , et al; Alzheimer Precision Medicine Initiative (APMI). Revolution of Alzheimer precision neurology. Passageway of systems biology and neurophysiology. J Alzheimers Dis 2018; 64 (s1): S47-S105
62 Nelson PT, Trojanowski JQ, Abner EL. , et al. “New old pathologies”: Ad, part, and cerebral age-related TDP-43 with sclerosis (CARTS). J Neuropathol Exp Neurol 2016; 75 (06) 482-498
63 Miech RA, Breitner JCS, Zandi PP, Khachaturian AS, Anthony JC, Mayer L. Incidence of AD may decline in the early 90s for men, later for women: the Cache County study. Neurology 2002; 58 (02) 209-218
64 Fratiglioni L, Launer LJ, Andersen K. , et al; Neurologic Diseases in the Elderly Research Group. Incidence of dementia and major subtypes in Europe: a collaborative study of population-based cohorts. Neurology 2000; 54 (11) (Suppl. 05) S10-S15
65 Matthews F, Brayne C. ; Medical Research Council Cognitive Function and Ageing Study Investigators. The incidence of dementia in England and Wales: findings from the five identical sites of the MRC CFA Study. PLoS Med 2005; 2 (08) e193
66 Gao S, Hendrie HC, Hall KS, Hui S. The relationships between age, sex, and the incidence of dementia and Alzheimer disease: a meta-analysis. Arch Gen Psychiatry 1998; 55 (09) 809-815
67 Hall CB, Verghese J, Sliwinski M. , et al. Dementia incidence may increase more slowly after age 90: results from the Bronx Aging Study. Neurology 2005; 65 (06) 882-886
68 Jellinger KA, Attems J. Prevalence of dementia disorders in the oldest-old: an autopsy study. Acta Neuropathol 2010; 119 (04) 421-433
69 Alzheimer's Disease International. World Alzheimer Report 2015: the global impact of dementia: an analysis of prevalence, incidence, cost and trends. 2015. Available at: https://www.alz.co.uk/research/WorldAlzheimerReport2015.pdf . Accessed February 8, 2019
70 Ganguli M, Dodge HH, Shen C, Pandav RS, DeKosky ST. Alzheimer disease and mortality: a 15-year epidemiological study. Arch Neurol 2005; 62 (05) 779-784
71 Wattmo C, Londos E, Minthon L. Risk factors that affect life expectancy in Alzheimer's disease: a 15-year follow-up. Dement Geriatr Cogn Disord 2014; 38 (5–6): 286-299
72 Shastry BS, Giblin FJ. Genes and susceptible loci of Alzheimer's disease. Brain Res Bull 1999; 48 (02) 121-127
73 Zhu X-C, Tan L, Wang H-F. , et al. Rate of early onset Alzheimer's disease: a systematic review and meta-analysis. Ann Transl Med 2015; 3 (03) 38
74 Wingo TS, Lah JJ, Levey AI, Cutler DJ. Autosomal recessive causes likely in early-onset Alzheimer disease. Arch Neurol 2012; 69 (01) 59-64
75 Gatz M, Reynolds CA, Fratiglioni L. , et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006; 63 (02) 168-174
76 Jarmolowicz AI, Chen H-Y, Panegyres PK. The patterns of inheritance in early-onset dementia: Alzheimer's disease and frontotemporal dementia. Am J Alzheimers Dis Other Demen 2015; 30 (03) 299-306
77 van Duijn CM, de Knijff P, Cruts M. , et al. Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet 1994; 7 (01) 74-78
78 Campion D, Dumanchin C, Hannequin D. , et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999; 65 (03) 664-670
79 Brouwers N, Sleegers K, Van Broeckhoven C. Molecular genetics of Alzheimer's disease: an update. Ann Med 2008; 40 (08) 562-583
80 Wisniewski KE, Dalton AJ, McLachlan C, Wen GY, Wisniewski HM. Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology 1985; 35 (07) 957-961
81 Wisniewski KE, Wisniewski HM, Wen GY. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol 1985; 17 (03) 278-282
82 Hersi M, Irvine B, Gupta P, Gomes J, Birkett N, Krewski D. Risk factors associated with the onset and progression of Alzheimer's disease: a systematic review of the evidence. Neurotoxicology 2017; 61: 143-187
83 Corder EH, Saunders AM, Strittmatter WJ. , et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261 (5123): 921-923
84 Farrer LA, Cupples LA, Haines JL. , et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 278 (16) 1349-1356
85 Nelson PT, Head E, Schmitt FA. , et al. Alzheimer's disease is not “brain aging”: neuropathological, genetic, and epidemiological human studies. Acta Neuropathol 2011; 121 (05) 571-587
86 Abner EL, Nelson PT, Kryscio RJ. , et al. Diabetes is associated with cerebrovascular but not Alzheimer's disease neuropathology. Alzheimers Dement 2016; 12 (08) 882-889
87 Dos Santos Matioli MNP, Suemoto CK, Rodriguez RD. , et al. Diabetes is not associated with Alzheimer's disease neuropathology. J Alzheimers Dis 2017; 60 (03) 1035-1043
88 Ribot T. Les Maladies de La Mémoire. Paris: Baillière; 1881
89 Eustache F, Giffard B, Rauchs G. La maladie d'Alzheimer et la mémoire humaine. Alzheimer's disease and human memory. Rev Neurol 2006; 162 (10) 929-939
90 Scoville WB, Milner B. Loss of recent memory after bilateral hippocampal lesions. J Neurol Neurosurg Psychiatry 1957; 20 (01) 11-21
91 Rosenbaum RS, Köhler S, Schacter DL. , et al. The case of K.C.: contributions of a memory-impaired person to memory theory. Neuropsychologia 2005; 43 (07) 989-1021
92 Grober E, Buschke H, Korey SR. Genuine memory deficits in dementia. Dev Neuropsychol 1987; 3 (01) 13-36
93 Tounsi H, Deweer B, Ergis AM. , et al. Sensitivity to semantic cuing: an index of episodic memory dysfunction in early Alzheimer disease. Alzheimer Dis Assoc Disord 1999; 13 (01) 38-46
94 Desgranges B, Baron J-C, Giffard B. , et al. The neural basis of intrusions in free recall and cued recall: a PET study in Alzheimer's disease. Neuroimage 2002; 17 (03) 1658-1664
95 Teichmann M, Epelbaum S, Samri D. , et al. Free and cued selective reminding test - accuracy for the differential diagnosis of Alzheimer's and neurodegenerative diseases: a large-scale biomarker-characterized monocenter cohort study (ClinAD). Alzheimers Dement 2017; 13 (08) 913-923
96 Sarazin M, Berr C, De Rotrou J. , et al. Amnestic syndrome of the medial temporal type identifies prodromal AD: a longitudinal study. Neurology 2007; 69 (19) 1859-1867
97 Rami L, Solé-Padullés C, Fortea J. , et al. Applying the new research diagnostic criteria: MRI findings and neuropsychological correlations of prodromal AD. Int J Geriatr Psychiatry 2012; 27 (02) 127-134
98 Derby CA, Burns LC, Wang C. , et al. Screening for predementia AD: time-dependent operating characteristics of episodic memory tests. Neurology 2013; 80 (14) 1307-1314
99 Wagner M, Wolf S, Reischies FM. , et al. Biomarker validation of a cued recall memory deficit in prodromal Alzheimer disease. Neurology 2012; 78 (06) 379-386
100 Gomar JJ, Bobes-Bascaran MT, Conejero-Goldberg C, Davies P, Goldberg TE. ; Alzheimer's Disease Neuroimaging Initiative. Utility of combinations of biomarkers, cognitive markers, and risk factors to predict conversion from mild cognitive impairment to Alzheimer disease in patients in the Alzheimer's disease neuroimaging initiative. Arch Gen Psychiatry 2011; 68 (09) 961-969
101 Estévez-González A, Kulisevsky J, Boltes A, Otermín P, García-Sánchez C. Rey verbal learning test is a useful tool for differential diagnosis in the preclinical phase of Alzheimer's disease: comparison with mild cognitive impairment and normal aging. Int J Geriatr Psychiatry 2003; 18 (11) 1021-1028
102 Barbeau E, Didic M, Tramoni E. , et al. Evaluation of visual recognition memory in MCI patients. Neurology 2004; 62 (08) 1317-1322
103 Della Sala S, Parra MA, Fabi K, Luzzi S, Abrahams S. Short-term memory binding is impaired in AD but not in non-AD dementias. Neuropsychologia 2012; 50 (05) 833-840
104 Parra MA, Abrahams S, Logie RH, Méndez LG, Lopera F, Della Sala S. Visual short-term memory binding deficits in familial Alzheimer's disease. Brain 2010; 133 (09) 2702-2713
105 Mega MS, Cummings JL, Fiorello T, Gornbein J. The spectrum of behavioral changes in Alzheimer's disease. Neurology 1996; 46 (01) 130-135
106 Honig LS, Mayeux R. Natural history of Alzheimer's disease. Aging (Milano) 2001; 13 (03) 171-182
107 Pandis D, Scarmeas N. Seizures in Alzheimer disease: clinical and epidemiological data. Epilepsy Curr 2012; 12 (05) 184-187
108 Nag S, Yu L, Capuano AW. , et al. Hippocampal sclerosis and TDP-43 pathology in aging and Alzheimer disease. Ann Neurol 2015; 77 (06) 942-952
109 Nelson PT, Abner EL, Schmitt FA. , et al. Brains with medial temporal lobe neurofibrillary tangles but no neuritic amyloid plaques are a diagnostic dilemma but may have pathogenetic aspects distinct from Alzheimer disease. J Neuropathol Exp Neurol 2009; 68 (07) 774-784
110 Saito Y, Ruberu NN, Sawabe M. , et al. Staging of argyrophilic grains: an age-associated tauopathy. J Neuropathol Exp Neurol 2004; 63 (09) 911-918
111 Shim YS, Roe CM, Buckles VD, Morris JC. Clinicopathologic study of Alzheimer's disease: Alzheimer mimics. J Alzheimers Dis 2013; 35 (04) 799-811
112 Le Guennec K, Quenez O, Nicolas G. , et al. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Mol Psychiatry 2017; 22 (08) 1119-1125
113 Lindquist SG, Holm IE, Schwartz M. , et al. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. Eur J Neurol 2008; 15 (04) 377-385
114 Le Ber I, Camuzat A, Hannequin D. , et al; French research network on FTD/FTD-MND. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 2008; 131 (Pt 3): 732-746
115 Murray ME, Cannon A, Graff-Radford NR. , et al. Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathol 2014; 128 (03) 411-421
116 Adeli A, Savica R, Lowe VJ. , et al. The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome. Neurocase 2014; 20 (01) 110-120
117 SantaCruz KS, Rottunda SJ, Meints JP, Bearer EL, Bigio EH, McCarten JR. A case of globular glial tauopathy presenting clinically as alzheimer disease. Alzheimer Dis Assoc Disord 2015; 29 (01) 82-84
118 Fujishiro H, Nakamura S, Kitazawa M, Sato K, Iseki E. Early detection of dementia with Lewy bodies in patients with amnestic mild cognitive impairment using 123I-MIBG cardiac scintigraphy. J Neurol Sci 2012; 315 (1-2): 115-119
119 Palmqvist S, Hertze J, Minthon L. , et al. Comparison of brief cognitive tests and CSF biomarkers in predicting Alzheimer's disease in mild cognitive impairment: six-year follow-up study. PLoS One 2012; 7 (06) e38639
120 Fredericks CA, Koestler M, Seeley W, Miller B, Boxer A, Grinberg LT. Primary chronic traumatic encephalopathy in an older patient with late-onset AD phenotype. Neurol Clin Pract 2015; 5 (06) 475-479
121 Grinberg LT, Anghinah R, Nascimento CF. , et al. Chronic traumatic encephalopathy presenting as Alzheimer's disease in a retired soccer player. J Alzheimers Dis 2016; 54 (01) 169-174
122 Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. Nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging 2014; 35 (11) 2656.e13-2656.e16
123 Cousyn L, Grabli D, Seilhean D. , et al. First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation. Cortex 2018; ;(September): S0010-9452(18)30264-8
124 Pitel AL, Beaunieux H, Witkowski T. , et al. Episodic and working memory deficits in alcoholic Korsakoff patients: the continuity theory revisited. Alcohol Clin Exp Res 2008; 32 (07) 1229-1241
125 Kim S-Y, Um YH, Lim SC, Jeong J-H. Limbic encephalitis manifesting as selective amnesia and seizure-like activity: a case report. Clin Psychopharmacol Neurosci 2018; 16 (01) 109-113
126 Bennett DA, Wilson RS, Boyle PA, Buchman AS, Schneider JA. Relation of neuropathology to cognition in persons without cognitive impairment. Ann Neurol 2012; 72 (04) 599-609
127 Helmstaedter C, Elger CE. Chronic temporal lobe epilepsy: a neurodevelopmental or progressively dementing disease?. Brain 2009; 132 (Pt 10): 2822-2830
128 Arlt S. Non-Alzheimer's disease-related memory impairment and dementia. Dialogues Clin Neurosci 2013; 15 (04) 465-473
129 Sorbi S, Hort J, Erkinjuntti T. , et al; EFNS Scientist Panel on Dementia and Cognitive Neurology. EFNS-ENS guidelines on the diagnosis and management of disorders associated with dementia. Eur J Neurol 2012; 19 (09) 1159-1179
130 Galton CJ, Patterson K, Xuereb JH, Hodges JR. Atypical and typical presentations of Alzheimer's disease: a clinical, neuropsychological, neuroimaging and pathological study of 13 cases. Brain 2000; 123 (Pt 3): 484-498
131 Snowden JS, Stopford CL, Julien CL. , et al. Cognitive phenotypes in Alzheimer's disease and genetic risk. Cortex 2007; 43 (07) 835-845
132 Murray ME, Graff-Radford NR, Ross OA, Petersen RC, Duara R, Dickson DW. Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study. Lancet Neurol 2011; 10 (09) 785-796
133 Crutch SJ, Schott JM, Rabinovici GD. , et al; Alzheimer's Association ISTAART Atypical Alzheimer's Disease and Associated Syndromes Professional Interest Area. Consensus classification of posterior cortical atrophy. Alzheimers Dement 2017; 13 (08) 870-884
134 Ross SJ, Graham N, Stuart-Green L. , et al. Progressive biparietal atrophy: an atypical presentation of Alzheimer's disease. J Neurol Neurosurg Psychiatry 1996; 61 (04) 388-395
135 Renner JA, Burns JM, Hou CE, McKeel Jr DW, Storandt M, Morris JC. Progressive posterior cortical dysfunction: a clinicopathologic series. Neurology 2004; 63 (07) 1175-1180
136 Tang-Wai DF, Graff-Radford NR, Boeve BF. , et al. Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy. Neurology 2004; 63 (07) 1168-1174
137 Alladi S, Xuereb J, Bak T. , et al. Focal cortical presentations of Alzheimer's disease. Brain 2007; 130 (Pt 10): 2636-2645
138 Crutch SJ, Lehmann M, Schott JM, Rabinovici GD, Rossor MN, Fox NC. Posterior cortical atrophy. Lancet Neurol 2012; 11 (02) 170-178
139 Gorno-Tempini ML, Hillis AE, Weintraub S. , et al. Classification of primary progressive aphasia and its variants. Neurology 2011; 76 (11) 1006-1014
140 Harris JM, Gall C, Thompson JC. , et al. Classification and pathology of primary progressive aphasia. Neurology 2013; 81 (21) 1832-1839
141 Mesulam MM, Weintraub S, Rogalski EJ, Wieneke C, Geula C, Bigio EH. Asymmetry and heterogeneity of Alzheimer's and frontotemporal pathology in primary progressive aphasia. Brain 2014; 137 (Pt 4): 1176-1192
142 Spinelli EG, Mandelli ML, Miller ZA. , et al. Typical and atypical pathology in primary progressive aphasia variants. Ann Neurol 2017; 81 (03) 430-443
143 Johnson JK, Head E, Kim R, Starr A, Cotman CW. Clinical and pathological evidence for a frontal variant of Alzheimer disease. Arch Neurol 1999; 56 (10) 1233-1239
144 Woodward M, Jacova C, Black SE, Kertesz A, Mackenzie IR, Feldman H. ; ACCORD investigator group. Differentiating the frontal variant of Alzheimer's disease. Int J Geriatr Psychiatry 2010; 25 (07) 732-738
145 Ossenkoppele R, Pijnenburg YAL, Perry DC. , et al. The behavioural/dysexecutive variant of Alzheimer's disease: clinical, neuroimaging and pathological features. Brain 2015; 138 (Pt 9): 2732-2749
146 Rascovsky K, Hodges JR, Knopman D. , et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011; 134 (Pt 9): 2456-2477
147 Rosen HJ, Gorno-Tempini ML, Goldman WP. , et al. Patterns of brain atrophy in frontotemporal dementia and semantic dementia. Neurology 2002; 58 (02) 198-208
148 Shi J, Shaw CL, Du Plessis D. , et al. Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation. Acta Neuropathol 2005; 110 (05) 501-512
149 Léger GC, Banks SJ. Neuropsychiatric symptom profile differs based on pathology in patients with clinically diagnosed behavioral variant frontotemporal dementia. Dement Geriatr Cogn Disord 2014; 37 (1–2): 104-112
150 Perry DC, Brown JA, Possin KL. , et al. Clinicopathological correlations in behavioural variant frontotemporal dementia. Brain 2017; 140 (12) 3329-3345
151 Daffner KR. Current approaches to the clinical diagnosis of Alzheimer's disease. In: Scinto LFM, Daffner KR. , eds. Early Diagnosis of Alzheimer's Disease. Totowa, NJ: Humana Press; 2012: 29-64
152 Armstrong MJ, Litvan I, Lang AE. , et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 2013; 80 (05) 496-503
153 Lee SE, Rabinovici GD, Mayo MC. , et al. Clinicopathological correlations in corticobasal degeneration. Ann Neurol 2011; 70 (02) 327-340
154 Di Stefano F, Kas A, Habert MO. , et al. The phenotypical core of Alzheimer's disease-related and nonrelated variants of the corticobasal syndrome: a systematic clinical, neuropsychological, imaging, and biomarker study. Alzheimers Dement 2016; 12 (07) 786-795
155 Kasanuki K, Josephs KA, Ferman TJ. , et al. Diffuse Lewy body disease manifesting as corticobasal syndrome: a rare form of Lewy body disease. Neurology 2018; 91 (03) e268-e279
156 Mendez MF. Early-onset Alzheimer disease. Neurol Clin 2017; 35 (02) 263-281
157 Chang KJ, Hong CH, Lee KS. , et al. Mortality risk after diagnosis of early-onset Alzheimer's disease versus late-onset Alzheimer's disease: a propensity score matching analysis. J Alzheimers Dis 2017; 56 (04) 1341-1348
158 Joshi A, Ringman JM, Lee AS, Juarez KO, Mendez MF. Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease. J Neurol 2012; 259 (10) 2182-2188
159 Rupp C, Beyreuther K, Maurer K, Kins S. A presenilin 1 mutation in the first case of Alzheimer's disease: revisited. Alzheimers Dement 2014; 10 (06) 869-872
160 Müller U, Winter P, Graeber MB. A presenilin 1 mutation in the first case of Alzheimer's disease. Lancet Neurol 2013; 12 (02) 129-130
161 Goedert M. Oskar Fischer and the study of dementia. Brain 2009; 132 (Pt 4): 1102-1111