Resumo
Objetivo: Relatar um caso de Afasia Progressiva Primária variante da Demência Frontotemporal com agramatismo (FTD-PPA), uma doença neurodegenerativa rara que apresenta desafios significativos no diagnóstico diferencial, particularmente com a Doença de Alzheimer (DA). Detalhamento de caso: Uma paciente de 62 anos inicialmente apresentou amnésia, ansiedade e dificuldades de fala, que foram gerenciadas com fluoxetina, resultando em melhora parcial. Ao longo de três anos, ela exibiu declínio cognitivo e funcional progressivo, incluindo confusão mental, afasia, dificuldades motoras e perda de peso significativa. As pontuações no Mini-Exame do Estado Mental (MMSE) deterioraram de 20/30 para 9/30. O diagnóstico foi estabelecido priorizando a evidência decisiva de biomarcadores no líquido cefalorraquidiano, que excluiu a DA, e o fenótipo clínico dominante de afasia progressiva em detrimento dos achados atípicos de neuroimagem. O tratamento incluiu antidepressivos, donepezil (posteriormente descontinuado) e fonoterapia, com melhora cognitiva limitada, apesar da estabilização do humor. Considerações finais: Este caso destaca as complexidades do diagnóstico de comprometimento cognitivo progressivo. Avaliações clínicas, neuropsicológicas e de biomarcadores abrangentes foram críticas na diferenciação da FTD-PPA da DA. A predominância de déficits linguísticos e os resultados dos biomarcadores confirmaram o diagnóstico da variante agramática da FTD-PPA. O acompanhamento multidisciplinar e o manejo individualizado dos sintomas foram essenciais para otimizar a qualidade de vida da paciente.
Referências
BELDER CRS, et al. Primary progressive aphasia: six questions in search of an answer. Journal of Neurology, 2024; 271: 1028–1046.
CHOW TW, MENDEZ MF. Goals in symptomatic pharmacologic management of frontotemporal lobar degeneration. American Journal of Alzheimer’s Disease & Other Dementias, 2002; 17(5): 267–272.
COYLE-GILCHRIST IT, et al. Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes. Neurology, 2016; 86: 1736–1743.
GORNO-TEMPINI ML, et al. Cognition and anatomy in three variants of primary progressive aphasia. Annals of Neurology, 2004; 55(3): 335–46.
GORNO-TEMPINI ML, et al. Classification of primary progressive aphasia and its variants. Neurology, 2011; 76(11): 1006–14.
HARDY CJ, et al. Symptom-led staging for primary progressive aphasia. MedRxiv, 2023.
JACK CR, et al. A/T/N: An unbiased descriptive classification scheme for Alzheimer disease biomarkers. Neurology, 2016; 87(5): 539-47.
JACK CR, et al. Suspected non-Alzheimer disease pathophysiology--concept and controversy. Nature Reviews Neurology, 2016; 12(2): 117-24.
LAAKSO MP, et al. Hippocampus and entorhinal cortex in frontotemporal dementia and Alzheimer's disease: a morphometric MRI study. Biological Psychiatry, 2000; 47(12): 1056-63.
GUIMET NM, et al. Advances in Treatment of Frontotemporal Dementia. The Journal of Neuropsychiatry and Clinical Neurosciences, 2022; 34(4): 316–327.
MAGNIN E, et al. Initial neuropsychological profile of a series of 20 patients with logopenic variant of primary progressive aphasia. Journal of Alzheimer’s Disease, 2013; 36: 799–808.
MAGNIN E, et al. Primary progressive aphasia in the network of French Alzheimer Plan memory centers. Journal of Alzheimer's Disease, 2016; 54: 1459–1471.
MARSHALL CR, et al. Primary progressive aphasia: a clinical approach. Journal of Neurology, 2018; 265(6): 1474–90.
MESULAM M. Primary progressive aphasia: A dementia of the language network. Dementia & Neuropsychologia, 2013; 7(1): 2–9.
MOLINUEVO JL, et al. The clinical use of cerebrospinal fluid biomarker testing for Alzheimer’s disease diagnosis: A consensus paper from the Alzheimer’s Biomarkers Standardization Initiative. Alzheimer’s & Dementia, 2014; 10(6): 808–17.
OLNEY NT, et al. Frontotemporal Dementia. Neurologic clinics, 2017; 35(2): 339–374.
PEET BT, et al. Neuroimaging in Frontotemporal Dementia: Heterogeneity and Relationships with Underlying Neuropathology. Neurotherapeutics, 2021; 18(2): 728-752.
RABINOVICI GD, MILLER BL. Frontotemporal lobar degeneration. CNS Drugs 2010; 24: 375–398.
REUTER M, et al. Head motion during MRI acquisition reduces gray matter volume and thickness estimates. NeuroImage, 2015; 117: 125–135.
RIZZI L, BALTHAZAR MLF. Mini-review: The suspected non-Alzheimer’s disease pathophysiology. Neuroscience Letters, 2021; 764: 136208.
SOUZA LC, et al. Biological markers of Alzheimer’s disease. Arquivos de Neuro-Psiquiatria, 2014; 72(3): 227–31.
VOS SJB, et al. The clinical importance of suspected non-Alzheimer disease pathophysiology. Nature Reviews Neurology, 2024; 20(6): 337–46.
WHITWELL J, JOSEPHS K. Neuroimaging in frontotemporal lobar degeneration—predicting molecular pathology. Nature Reviews Neurology, 2012; 8: 131–142.
