Fatal familial insomnia: a video-polysomnographic case report. Megelin, T., Thomas, B., Ferrer, X., & Ghorayeb, I. Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. Lugaresi, E., Medori, R., Montagna, P., Baruzzi, A., Cortelli, P., Lugaresi, A. Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review. Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. Clinical and neuroimaging features of a Chinese patient with fatal familial insomnia. Clinical Reasoning: A 45-year-old man with progressive insomnia and psychiatric and motor symptoms. J., Schrag, M., Sanamandra, S., & Maciel, C. Midbrain hypometabolism in fatal familial insomnia: a case report and a statistical parametric mapping analysis of a korean family. A proposal of new diagnostic pathway for fatal familial insomnia. Krasnianski, A., Sanchez Juan, P., Ponto, C., Bartl, M., Heinemann, U., Varges, D. Genetic prion disease: the EUROCJD experience. G., Puopolo, M., Ladogana, A., Pocchiari, M., Budka, H., van Duijn, C. StatPearls Publishing Copyright © 2021, StatPearls Publishing LLC. The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits. Jansen, C., Parchi, P., Jelles, B., Gouw, A. Continuum (Minneap Minn), 21(6 Neuroinfectious Disease), 1612-1638. Principais itens para relatar Revisões sistemáticas e Meta-análises: A recomendação PRISMA. Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies. įukuoka, T., Nakazato, Y., Yamamoto, M., Miyake, A., Mitsufuji, T., & Yamamoto, T. Fatal familial insomnia (FFI) complicated by posterior reversible encephalopathy syndrome (PRES). (Etapas na Condução de uma Revisão Sistemática.)įroböse, T., Förstl, H., & Förschler, A. Sexual disinhibition and agrypnia excitata in fatal familial insomnia. Fatal familial insomnia and sporadic fatal insomnia. Gait disorders in fatal familial insomnia. Ĭortelli, P., Fabbri, M., Calandra-Buonaura, G., Capellari, S., Tinuper, P., Parchi, P., & Lugaresi, E. Epidemiological characteristics of human prion diseases. Genetic prion disease-associated myelodysplasia and SIADH in siblings. E., MacKinlay, N., McGlade, A., Collins, S., & Ng, K. Biot's breathing in a woman with fatal familial insomnia: is there a role for noninvasive ventilation? J Clin Sleep Med, 7(1), 89-91.Ĭhang, F. Differentiating Oneiric Stupor in Agrypnia Excitata From Dreaming Disorders. Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications. Although insomnia is the most common initial symptom, there are cases which FFI may initially manifest with symptoms that mimic other neurodegenerative pathologies or psychological pathologies, difficulting the diagnosis.īaldelli, L., & Provini, F. Conclusion: China and the USA have the highest FFI absolute frequencies, yet some European countries, such as Spain and France, have a higher relative frequency. However, regarding the total number of FFI carriers, Brazil had seven, but South Korea, France and Spain had three carriers each country. Brazil, Germany and South Korea had two affected families each country. China had a total of ten affected by FFI in five families. The USA presented an absolute frequency of 17 people distributed in three families. Some cases presented symptoms suggestive of other diagnostic hypotheses such as tremors (15%) and mood changes (10%). The most common initial symptoms were progressive insomnia (55%), cognitive deficits (25%), weight loss (25%), gait alterations (25%) and disorientation (25%). Results: Forty-nine individuals with FFI were detected. Methodology: This is a systematic literature review which includes case reports about FFI, published from 2011 to 2021, indexed in PubMed/MEDLINE databases. The aim of this review is to identify the initial clinical manifestations of FFI and its geographic distribution during the last decade. Introduction: Fatal familial insomnia (FFI) is a neurodegenerative autosomal dominant prion disease caused by a mutation in the cellular protein gene (PrPC). Fatal Familial Insomnia Hereditary Prion Disease Clinical Features Epidemiology.
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