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Advisor(s)
Abstract(s)
A DemĂȘncia Frontotemporal Ă© uma alteração neurodegenerativa progressiva caracterizada por envolvimento selectivo do lobo frontal e temporal. Trata-se da segunda causa mais frequente de demĂȘncia com inĂcio em idade precoce. Distinguem-se essencialmente duas formas clĂnicas, uma comportamental e uma relacionada com a linguagem que pode ainda ser subdividida em trĂȘs variantes principais (afasia progressiva nĂŁo-fluente, demĂȘncia semĂąntica e afasia logopĂ©nica progressiva). Estes diferentes quadros clĂnicos correlacionam-se com diferentes padrĂ”es de atrofia nos exames de imagem crĂąnio-encefĂĄlicos o que Ă© Ăștil no diagnĂłstico. Frequentemente a DemĂȘncia Frontotemporal coexiste com doença dos neurĂłnios motores, caracterĂsticas parkinsĂłnicas e outras alteraçÔes de movimento.
Para alĂ©m da sua heterogeneidade clĂnica, a DemĂȘncia Frontotemporal Ă© tambĂ©m heterogĂ©nea a nĂvel neuropatolĂłgico e genĂ©tico envolvendo diferentes proteinopatias e mutaçÔes genĂ©ticas o que faz dela uma doença altamente complexa. Permanece sub-identificada e por vezes erroneamente diagnosticada, o que pode conduzir a tratamentos inapropriados e acarretar sofrimento para os pacientes e as suas famĂlias. Actualmente o diagnĂłstico assenta fundamentalmente numa histĂłria clĂnica pormenorizada, avaliação neuropsicolĂłgica e exame neurolĂłgico apoiados por estudos de imagiologia crĂąnio-encefĂĄlica.
O tratamento mantém-se essencialmente sintomåtico e baseia-se em intervençÔes não-farmacológicas e fårmacos testados e aprovados no tratamento de outras patologias. A descoberta dos diferentes subtipos neuropatológicos e das mutaçÔes genéticas envolvidas traz consigo a possibilidade de novos tratamentos direccionados e com potencial de alterar o curso da doença.
Este trabalho analisa a classificação clĂnica, patolĂłgica e genĂ©tica da doença e o seu diagnĂłstico. Tendo em conta os actuais desafios diagnĂłsticos, os principais diagnĂłsticos diferenciais a considerar sĂŁo abordados e Ă© proposto um algoritmo de diagnĂłstico. Ă tambĂ©m apresentada uma breve descrição das alternativas terapĂȘuticas actuais. Finalmente sĂŁo introduzidos alguns casos clĂnicos recolhidos no Centro Hospitalar Cova da Beira numa tentativa de unir os conceitos estudados Ă prĂĄtica clĂnica e tambĂ©m de ilustrar a complexidade e a diversidade que os clĂnicos enfrentam no seu dia-a-dia.
Frontotemporal dementia is a progressive neurodegenerative condition characterized by selective involvement of the frontal and temporal lobes. It represents the second most frequent form of early-onset dementia. Two major clinical forms are distinguished, a behavioral type and a language type which can be further subdivided into three main variants (progressive nonfluent aphasia, semantic dementia and logopenic primary progressive aphasia). These different clinical patterns correlate with regional patterns of atrophy on brain imaging studies which is helpful for diagnosis. Frontotemporal dementia frequently occurs in association with motor neuron disease, parkinsonian features and other movement abnormalities. Besides its clinical heterogeneity, Frontotemporal dementia is also neuropathologically and genetically heterogeneous encompassing a variety of proteinopathies and gene mutations making it a highly complex disease. It is still under-recognized and commonly misdiagnosed what may lead to inappropriate treatment and suffering for patients and their families. Its diagnosis currently lies on careful history, neuropsychological evaluation and neurological examination supported by brain imaging studies. The treatment is still largely symptomatic and based upon non-pharmacologic interventions and drugs tested for other conditions. The discovery of genetic and neuropathological subtypes brings hope for new and directed treatments that may change the course of the disease. This review will focus on the clinical, pathological and genetic classification of the disease and its diagnosis. Considering the actual diagnostic troubles, the main pathologies to consider for differential diagnosis are also pointed up and a diagnostic algorithm is proposed. A brief description of the current treatment options is also presented. Finally some clinical cases collected in Centro Hospitalar Cova da Beira are introduced in an attempt to bond the studied concepts with the clinical practice and to illustrate the complexity and diversity faced everyday by the clinicians.
Frontotemporal dementia is a progressive neurodegenerative condition characterized by selective involvement of the frontal and temporal lobes. It represents the second most frequent form of early-onset dementia. Two major clinical forms are distinguished, a behavioral type and a language type which can be further subdivided into three main variants (progressive nonfluent aphasia, semantic dementia and logopenic primary progressive aphasia). These different clinical patterns correlate with regional patterns of atrophy on brain imaging studies which is helpful for diagnosis. Frontotemporal dementia frequently occurs in association with motor neuron disease, parkinsonian features and other movement abnormalities. Besides its clinical heterogeneity, Frontotemporal dementia is also neuropathologically and genetically heterogeneous encompassing a variety of proteinopathies and gene mutations making it a highly complex disease. It is still under-recognized and commonly misdiagnosed what may lead to inappropriate treatment and suffering for patients and their families. Its diagnosis currently lies on careful history, neuropsychological evaluation and neurological examination supported by brain imaging studies. The treatment is still largely symptomatic and based upon non-pharmacologic interventions and drugs tested for other conditions. The discovery of genetic and neuropathological subtypes brings hope for new and directed treatments that may change the course of the disease. This review will focus on the clinical, pathological and genetic classification of the disease and its diagnosis. Considering the actual diagnostic troubles, the main pathologies to consider for differential diagnosis are also pointed up and a diagnostic algorithm is proposed. A brief description of the current treatment options is also presented. Finally some clinical cases collected in Centro Hospitalar Cova da Beira are introduced in an attempt to bond the studied concepts with the clinical practice and to illustrate the complexity and diversity faced everyday by the clinicians.
Description
Keywords
Afasia PrimĂĄria Progressiva Degeneração Lobar Frontotemporal DemĂȘncia Frontotemporal DiagnĂłstico Variante Comportamental da DemĂȘncia Frontotemporal