Analysis of a case series of behavioral variant frontotemporal dementia: Emphasis on diagnostic delay

Guimarães, Henrique Cerqueira; Vale, Thiago Cardoso; Pimentel, Victor; de Sá, Nayara Carvalho; Beato, Rogério Gomes; Caramelli, Paulo

doi:10.1590/S1980-57642013DN70100009

ABSTRACT

Introduction:

Despite many advances in the characterization of the behavioral variant of frontotemporal dementia (bvFTD), the diagnosis of this syndrome poses a significant challenge, while delays or diagnostic mistakes may impact the proper clinical management of these patients.

Objective:

To describe the clinical profile at first evaluation of a sample of patients with bvFTD from a specialized outpatient neurological unit, with emphasis on the analysis of the delay between the onset of symptoms and diagnosis.

Methods:

We selected 31 patients that fulfilled international consensus criteria for possible or probable bvFTD. Patients' medical admission sheets were thoroughly reviewed.

Results:

Patients' mean age was 67.9±8.2 years; 16 (51.6%) were men. Mean number of years of formal education was 7.7±4.0 years. Mean age at onset was 62.2±7.7 years, indicating a mean of 5.8 years of diagnostic delay. Thirteen patients (41.9%) presented with initial behavioral complaints only, eleven patients (35.5%) had mixed behavioral and memory complaints, five patients (16.1%) presented with memory complaints only, and two patient (6.4%) had behavioral and speech problems. Nine patients (29%) were admitted with alternative diagnoses. Mean and standard deviation scores for the mini-mental state examination, animal category fluency and memory test for drawings (five-minute delayed recall) were 19.3±6.3, 8.3±4.1 and 3.7±2.7, respectively.

Conclusion:

Most patients from this sample were evaluated almost six years after the onset of symptoms and performed poorly on both cognitive screening tests and functional evaluation measures.

Key words:
frontotemporal dementia; Alzheimer's disease; dementia; diagnosis

RESUMO

Introdução:

Apesar dos avanços na caracterização da variante comportamental da demência frontotemporal (vcDFT), o diagnóstico da síndrome apresenta-se desafiador e atrasos ou erros diagnósticos podem prejudicar o tratamento adequado aos pacientes.

Objetivo:

Descrever o perfil clínico à primeira avaliação de pacientes com vcDFT de uma unidade neurológica ambulatorial especializada, com ênfase na análise do atraso entre o início dos sintomas e diagnóstico.

Métodos:

Selecionamos 31 pacientes que preencheram os critérios internacionais para vcDFT possível ou provável. As fichas de admissão foram minuciosamente revisadas.

Resultados:

A média de idade dos pacientes foi 67,9±8,2 anos; 16 (51,6%) eram homens. A média de anos de escolaridade foi de 7,7±4,0 anos. A média de idade de início dos sintomas foi 62,2±7,7 anos, indicando um atraso diagnóstico médio de 5,8 anos. Treze pacientes (41,9%) apresentaram-se com apenas queixas comportamentais, onze pacientes (35,5%) tinham queixas amnésticas e comportamentais, cinco pacientes (16,1%) apresentaram-se apenas com queixas de perda de memória, e dois pacientes (6,4%) com problemas de fala e comportamentais. Nove pacientes (29%) foram admitidos com diagnósticos alternativos. A média e desvio-padrão dos escores do mini-exame do estado mental, fluência verbal de animais e teste de memória de figuras (evocação em cinco minutos) foram 19,3±6,3, 8,3±4,1 e 3,7±2,7, respectivamente.

Conclusão:

A maioria dos pacientes da amostra foi avaliada após uma média de quase seis anos de início dos sintomas e apresentaram baixo desempenho nos testes cognitivos e nas medidas de avaliação funcional.

Palavras-chave:
demência frontotemporal; doença de Alzheimer; demência; diagnóstico

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REFERENCES

Van Lagenhove T, van der Zee J, Gijselinck I, et al. Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort. JAMA Neurol 2013;1:1-9.
Galimberti D, Scarpini E. Genetics of frontotemporal lobar degeneration. Front Neur 2012;3:52.
Benussi L, Guidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most commom FTLD and CBS associated mutations worldwide. Neurobiol Dis 2009;33:379-385.
Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry 2011;82:476-486.
Neary D, Snowden J, Mann D. Frontotemporal dementia. Lancet Neurol 2005;4:771-780.
Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9orf72 mutations. Brain 2012;135:693-708.
Hornberger M, Piguet O. Episodic memory in frontotemporal dementia: a critical review. Brain2012;135:678-692.
Hornberger M, Piguet O, Grahan AJ, Nestor PJ, Hodges JR. How preserved is episodic memory in behavioral variant frontotemporal dementia? Neurology 2010;74:472-479.
Liscic RM, Storandt M, Cairns NJ, Morris JC. Clinical and psychometrical distinction of frontotemporal and Alzheimer frontotemporal dementias. Arch Neurol 2007;64:535-540.
Mendez MF, Joshi A, Tassniyom K, et al. Clinicopathologic differencess among patients with behavioral variant frontotemporal dementia. Neurology2013;80;561-568.
Hallam BJ, Silverberg ND, LaMarre AK, Mackenzie IR, Feldman HH. Clinical presentation of prodromal frontotemporal dementia. Am J Alzheimer Dis Other Demen 2008;22:456-467.
Pijnenburg AL, Gillissen F, Jonker C, Scheltens P. Initial complaints in frontotemporal lobar degeneration. Dement Geriatr Cogn Disord 2004; 17:302-306.
Bahia VS. Underdiagnosis of frontotemporal lobar degeneration in Brazil. Dement Neuropsychol 2007;1:361-365.
Nitrini R, Lefèvre BH, Mathias SC, et al. Brief and easy-to-administer neuropsychological tests in the diagnosis of dementia. Arq Neuropsiquiatr 1994;52:457-465.
Pfeffer RI, Kurosaki TT, Harrah CH, et al. Measurement of functional activities in older adults in the community. J Gerontol 1982;37: 323-329.
Katz S, Downs TD, Cash HR, Grotz RC. Progress in the development of the index of ADL. Gerontologist 1970;10:20-30.
Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain2011;134:2456-2477.
Machado TH, Guimarães HC, Barbosa MT, et al. Cognitive descriptive analysis of control subjects in an epidemiologic study: The Pietà Study. Dement & Neuropsychol 2009:3(Suppl 1):17.
Manes F. Psychiatric conditions that can mimic early behavioral variant frontotemporal dementia: the importance of the new diagnostic criteria. Curr Psychiatry Rep 2012;14:450-452.
Rabinovici GD, Rosen HJ, Alkalay A, Kornak J, Furst AJ, et al. Amyloid vs FDG-PET in the differential diagnosis of AD and FTLD. Neurology2011;77:2034-2042.
Bian H, Van Swieten JC, Leight S, Massimo L, Wood E, et al. CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology2008;70:1827-1835.

Publication Dates

Publication in this collection
Jan-Mar 2013

History

Received
05 Nov 2012
Accepted
30 Jan 2013

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

[1] Van Lagenhove T, van der Zee J, Gijselinck I, et al. Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort. JAMA Neurol 2013;1:1-9.

[2] Galimberti D, Scarpini E. Genetics of frontotemporal lobar degeneration. Front Neur 2012;3:52.

[3] Benussi L, Guidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G. Progranulin Leu271LeufsX10 is one of the most commom FTLD and CBS associated mutations worldwide. Neurobiol Dis 2009;33:379-385.

[4] Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry 2011;82:476-486.

[5] Neary D, Snowden J, Mann D. Frontotemporal dementia. Lancet Neurol 2005;4:771-780.

[6] Snowden JS, Rollinson S, Thompson JC, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9orf72 mutations. Brain 2012;135:693-708.

[7] Hornberger M, Piguet O. Episodic memory in frontotemporal dementia: a critical review. Brain2012;135:678-692.

[8] Hornberger M, Piguet O, Grahan AJ, Nestor PJ, Hodges JR. How preserved is episodic memory in behavioral variant frontotemporal dementia? Neurology 2010;74:472-479.

[9] Liscic RM, Storandt M, Cairns NJ, Morris JC. Clinical and psychometrical distinction of frontotemporal and Alzheimer frontotemporal dementias. Arch Neurol 2007;64:535-540.

[10] Mendez MF, Joshi A, Tassniyom K, et al. Clinicopathologic differencess among patients with behavioral variant frontotemporal dementia. Neurology2013;80;561-568.

[11] Hallam BJ, Silverberg ND, LaMarre AK, Mackenzie IR, Feldman HH. Clinical presentation of prodromal frontotemporal dementia. Am J Alzheimer Dis Other Demen 2008;22:456-467.

[12] Pijnenburg AL, Gillissen F, Jonker C, Scheltens P. Initial complaints in frontotemporal lobar degeneration. Dement Geriatr Cogn Disord 2004; 17:302-306.

[13] Bahia VS. Underdiagnosis of frontotemporal lobar degeneration in Brazil. Dement Neuropsychol 2007;1:361-365.

[14] Nitrini R, Lefèvre BH, Mathias SC, et al. Brief and easy-to-administer neuropsychological tests in the diagnosis of dementia. Arq Neuropsiquiatr 1994;52:457-465.

[15] Pfeffer RI, Kurosaki TT, Harrah CH, et al. Measurement of functional activities in older adults in the community. J Gerontol 1982;37: 323-329.

[16] Katz S, Downs TD, Cash HR, Grotz RC. Progress in the development of the index of ADL. Gerontologist 1970;10:20-30.

[17] Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain2011;134:2456-2477.

[18] Machado TH, Guimarães HC, Barbosa MT, et al. Cognitive descriptive analysis of control subjects in an epidemiologic study: The Pietà Study. Dement & Neuropsychol 2009:3(Suppl 1):17.

[19] Manes F. Psychiatric conditions that can mimic early behavioral variant frontotemporal dementia: the importance of the new diagnostic criteria. Curr Psychiatry Rep 2012;14:450-452.

[20] Rabinovici GD, Rosen HJ, Alkalay A, Kornak J, Furst AJ, et al. Amyloid vs FDG-PET in the differential diagnosis of AD and FTLD. Neurology2011;77:2034-2042.

[21] Bian H, Van Swieten JC, Leight S, Massimo L, Wood E, et al. CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology2008;70:1827-1835.

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