Diagnosis of Alzheimer's disease in Brazil: Supplementary exams

Caramelli, Paulo; Teixeira, Antonio Lúcio; Buchpiguel, Carlos Alberto; Lee, Hae Won; Livramento, José Antônio; Fernandez, Liana Lisboa; Anghinah, Renato; ,

doi:10.1590/S1980-57642011DN05030004

Abstract

This article presents a review of the recommendations on supplementary exams employed for the clinical diagnosis of Alzheimer's disease (AD) in Brazil published in 2005. A systematic assessment of the consensus reached in other countries, and of articles on AD diagnosis in Brazil available on the PUBMED and LILACS medical databases, was carried out. Recommended laboratory exams included complete blood count, serum creatinine, thyroid stimulating hormone (TSH), albumin, hepatic enzymes, Vitamin B12, folic acid, calcium, serological reactions for syphilis and serology for HIV in patients aged younger than 60 years with atypical clinical signs or suggestive symptoms. Structural neuroimaging, computed tomography or - preferably - magnetic resonance exams, are indicated for diagnostic investigation of dementia syndrome to rule out secondary etiologies. Functional neuroimaging exams (SPECT and PET), when available, increase diagnostic reliability and assist in the differential diagnosis of other types of dementia. The cerebrospinal fluid exam is indicated in cases of pre-senile onset dementia with atypical clinical presentation or course, for communicant hydrocephaly, and suspected inflammatory, infectious or prion disease of the central nervous system. Routine electroencephalograms aid the differential diagnosis of dementia syndrome with other conditions which impair cognitive functioning. Genotyping of apolipoprotein E or other susceptibility polymorphisms is not recommended for diagnostic purposes or for assessing the risk of developing the disease. Biomarkers related to the molecular alterations in AD are largely limited to use exclusively in research protocols, but when available can contribute to improving the accuracy of diagnosis of the disease.

Key words:
consensus; guidelines; diagnosis; supplementary exams; Alzheimer's disease; Brazil

Resumo

Este artigo apresenta revisão das recomendações sobre os exames complementares empregados para o diagnóstico clínico de doença de Alzheimer (DA) no Brasil, publicadas em 2005. Foram avaliados de modo sistemático consensos elaborados em outros países e artigos sobre o diagnóstico de DA no Brasil disponíveis no PUBMED ou LILACS. Os exames laboratoriais recomendados são hemograma completo, creatinina sérica, hormônio tíreo-estimulante, albumina, enzimas hepáticas, vitamina B12, ácido fólico, cálcio, reações sorológicas para sífilis e, em pacientes com idade inferior a 60 anos, com apresentações clínicas atípicas ou com sintomas sugestivos, sorologia para HIV. Exame de neuroimagem estrutural, tomografia computadorizada ou - preferencialmente - ressonância magnética, é indicado na investigação diagnóstica de síndrome demencial, para exclusão de causas secundárias. Exames de neuroimagem funcional (SPECT e PET), quando disponíveis, aumentam a confiabilidade diagnóstica e auxiliam no diagnóstico diferencial de outras formas de demência. O exame do líquido cefalorraquidiano é preconizado em casos de demência de início pré-senil, com apresentação ou curso clínico atípicos, hidrocefalia comunicante e quando há suspeita de doença inflamatória, infecciosa ou priônica do sistema nervoso central. O eletroencefalograma de rotina auxilia no diagnóstico diferencial de síndrome demencial com outras condições que interferem no funcionamento cognitivo. A genotipagem da apolipoproteína E ou de outros polimorfismos de susceptibilidade não é recomendada com finalidade diagnóstica ou para avaliação de risco de desenvolvimento da doença. Os biomarcadores relacionados às alterações moleculares da DA ainda são de uso quase exclusivo em protocolos de pesquisa, mas quando disponíveis podem contribuir para maior precisão diagnóstica da doença.

Palavras-chave:
consenso; diretrizes; diagnóstico; exames complementares; doença de Alzheimer; Brasil

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Publication Dates

Publication in this collection
Jul-Sep 2011

History

Received
20 Mar 2010
Accepted
22 June 2011

This is an open-access article distributed under the terms of the Creative Commons Attribution License

[1] Knopman DS, DeKosky ST, Cummings JL, et al. Practice parameter: diagnosis of dementia (an evidence-based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2001;56:1143-1153.

[2] Nitrini R, Caramelli P, Bottino CM, Damasceno BP, Brucki SM, Anghinah R; Academia Brasileira de Neurologia. Diagnóstico de doença de Alzheimer no Brasil: critérios diagnósticos e exames complementares. Arq Neuropsiquiatr 2005;63:713-719.

[3] Hort J, O'Brien JT, Gainotti G, et al.; EFNS Scientist Panel on Dementia. EFNS guidelines for the diagnosis and management of Alzheimer's disease. Eur J Neurol 2010; 17:1236-1248.

[4] Humpel C, Marksteiner J. Peripheral biomarkers in dementia and Alzheimer's disease. In: Ritsner MS (Ed). The handbook of neuropsychiatric biomarkers, endophenotypes and genes. Volume III: metabolic and peripheral biomarkers. Berlin: Springer; 2009.

[5] Schneider P, Hampel H, Buerger K. Biological marker candidates of Alzheimer's disease in blood, plasma, and serum. CNS Neurosci Ther 2009;15:358-374.

[6] Song F, Poljak A, Smythe GA, Sachdev P. Plasma biomarkers for mild cognitive impairment and Alzheimer's disease. Brain Res Rev 2009;61:69-80.

[7] Locascio JJ, Fukumoto H, Yap L, et al. Plasma amyloid beta-protein and C-reactive protein in relation to the rate of progression of Alzheimer disease. Arch Neurol 2008; 65:776-785.

[8] Ray S, Britschgi M, Herbert C, et al. Classification and prediction of clinical Alzheimer's diagnosis based on plasma signaling proteins. Nat Med 2007;13:1359-1362.

[9] O'Bryant SE, Xiao G, Barber R, et al.; Texas Alzheimer's Research Consortium. A serum protein-based algorithm for the detection of Alzheimer disease. Arch Neurol 2010;67: 1077-1081.

[10] Roman GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies: report of the NINDS-AIREN International Workshop. Neurology 1993;43:250-260.

[11] Tschampa HJ, Kallenberg K, Urbach H, et al. MRI in the diagnosis of sporadic Creutzfeldt-Jakob disease: a study on inter-observer agreement. Brain 2005;128:2026-2033.

[12] Collie DA, Sellar RJ, Zeidler M, Colchester AC, Knight R, Will RG. MRI of Creutzfeldt-Jakob disease: imaging features and recommended MRI protocol. Clin Radiol 2001;56: 726-739.

[13] Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998;51:1546-1554.

[14] Convit A, De Leon MJ, Tarshish C, et al. Specific hippocampal volume reductions in individuals at risk for Alzheimer's disease. Neurobiol Aging 1997;18:131-138.

[15] Jack CR Jr., Petersen RC, Xu YC, et al. Medial temporal atrophy on MRI in normal aging and very mild Alzheimer's disease. Neurology 1997;49:786-794.

[16] Ball MJ, Fisman M, Hachinski V, et al. A new definition of Alzheimer's disease: a hippocampal dementia. Lancet 1985; 1:14-16.

[17] Fox NC, Warrington EK, Freeborough PA, et al. Presymptomatic hippocampal atrophy in Alzheimer's disease: a longitudinal MRI study. Brain 1996;119:2001-2007.

[18] Laakso MP, Soininen H, Partanen K, et al. MRI of the hippocampus in Alzheimer's disease: sensitivity, specificity, and analysis of the incorrectly classified subjects. Neurobiol Aging 1998;19:23-31.

[19] Scheltens P, Leys D, Barkhof F, et al. Atrophy of medial temporal lobes on MRI in "probable" Alzheimer's disease and normal ageing: diagnostic value and neuropsychological correlates. J Neurol Neurosurg Psychiatry 1992;55:967-972.

[20] Visser PJ, Verhey FR, Hofman PA, Scheltens P, Jolles J. Medial temporal lobe atrophy predicts Alzheimer's disease in patients with minor cognitive impairment. J Neurol Neurosurg Psychiatry 2002;72:491-497.

[21] McDonald CR, McEvoy LK, Gharapetian L, et al.; Alzheimer's Disease Neuroimaging Initiative. Regional rates of neocortical atrophy from normal aging to early Alzheimer disease. Neurology 2009;73:457-465.

[22] Fox NC, Scahill RI, Crum WR, Rossor MN. Correlation between rates of brain atrophy and cognitive decline in AD. Neurology 1999;52:1687-1689.

[23] Korf ES, Wahlund LO, Visser PJ, Scheltens P. Medial temporal lobe atrophy on MRI predicts dementia in patients with mild cognitive impairment. Neurology 2004;63:94-100.

[24] DeCarli C, Frisoni GB, Clark CM, et al.; Alzheimer's Disease Cooperative Study Group. Qualitative estimates of medial temporal atrophy as a predictor of progression from mild cognitive impairment to dementia. Arch Neurol 2007;64: 108-115.

[25] Duara R, Loewenstein DA, Potter E, et al. Medial temporal lobe atrophy on MRI scans and the diagnosis of Alzheimer disease. Neurology 2008;71:1986-1992.

[26] O'Brien JT. Role of imaging techniques in the diagnosis of dementia. Br J Radiol 2007;80:S71-S77.

[27] Desikan RS, Cabral HJ, Hess CP, et al.; Alzheimer's Disease Neuroimaging Initiative. Automated MRI measures identify individuals with mild cognitive impairment and Alzheimer's disease. Brain. 2009;132:2048-2057.

[28] Frisoni GB, Fox NC, Jack CR Jr, Scheltens P, Thompson PM. The clinical use of structural MRI in Alzheimer disease. Nat Rev Neurol 2010;6:67-77.

[29] Castillo M, Kwock L, Mukherji SK. Clinical applications of proton MR spectroscopy. AJNR Am J Neuroradiol 1996; 17:1-15.

[30] Miller BL. A review of chemical issues in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 1991;4:47-52.

[31] Shonk TK, Moats RA, Gifford P, et al. Probable Alzheimer disease: diagnosis with proton MR spectroscopy. Radiology 1995;195:65-72.

[32] Moats RA, Ernst T, Shonk TK, Ross BD. Abnormal cerebral metabolite concentrations in patients with probable Alzheimer disease. Magn Reson Med 1994;32:110-115.

[33] Parnetti L, Tarducci R, Presciutti O, et al. Proton magnetic resonance spectroscopy can differentiate Alzheimer's disease from normal aging. Mech Ageing Dev 1997;97:9-14.

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