Fatal family insomnia’s prevalence index and main initial clinical manifestations

Authors

DOI:

https://doi.org/10.33448/rsd-v10i14.21719

Keywords:

Fatal Familial Insomnia; Hereditary Prion Disease; Clinical Features; Epidemiology.

Abstract

Introduction: Fatal familial insomnia (FFI) is a neurodegenerative autosomal dominant prion disease caused by a mutation in the cellular protein gene (PrPC). The aim of this review is to identify the initial clinical manifestations of FFI and its geographic distribution during the last decade. Methodology: This is a systematic literature review which includes case reports about FFI, published from 2011 to 2021, indexed in PubMed/MEDLINE databases. Results: Forty-nine individuals with FFI were detected. The most common initial symptoms were progressive insomnia (55%), cognitive deficits (25%), weight loss (25%), gait alterations (25%) and disorientation (25%). Some cases presented symptoms suggestive of other diagnostic hypotheses such as tremors (15%) and mood changes (10%). The USA presented an absolute frequency of 17 people distributed in three families. China had a total of ten affected by FFI in five families. Brazil, Germany and South Korea had two affected families each country. However, regarding the total number of FFI carriers, Brazil had seven, but South Korea, France and Spain had three carriers each country. 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. 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.

References

Baldelli, L., & Provini, F. (2019). Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications. Auton Neurosci, 218, 68-86. https://doi.org/10.1016/j.autneu.2019.02.007

Baldelli, L., & Provini, F. (2020). Differentiating Oneiric Stupor in Agrypnia Excitata From Dreaming Disorders. Front Neurol, 11, 565694. https://doi.org/10.3389/fneur.2020.565694

Baldwin, K. J., & Correll, C. M. (2019). Prion Disease. Semin Neurol, 39(4), 428-439. https://doi.org/10.1055/s-0039-1687841

Casas-Méndez, L. F., Lujan, M., Vigil, L., & Sansa, G. (2011). 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.

Chang, F. C., Berman, Y., Buckland, M. E., MacKinlay, N., McGlade, A., Collins, S., & Ng, K. (2011). Genetic prion disease-associated myelodysplasia and SIADH in siblings. Eur J Neurol, 18(12), e149-150. https://doi.org/10.1111/j.1468-1331.2011.03511.x

Chen, C., & Dong, X. P. (2016). Epidemiological characteristics of human prion diseases. Infect Dis Poverty, 5(1), 47. https://doi.org/10.1186/s40249-016-0143-8

Cortelli, P., Fabbri, M., Calandra-Buonaura, G., Capellari, S., Tinuper, P., Parchi, P., & Lugaresi, E. (2014). Gait disorders in fatal familial insomnia. Mov Disord, 29(3), 420-424. https://doi.org/10.1002/mds.25786

Cracco, L., Appleby, B. S., & Gambetti, P. (2018). Fatal familial insomnia and sporadic fatal insomnia. Handb Clin Neurol, 153, 271-299. https://doi.org/10.1016/b978-0-444-63945-5.00015-5

de Souza, L. C., Teixeira, A. L., Rocha, F. L., Landemberger, M. C., Martins, V. R., & Caramelli, P. (2016). Sexual disinhibition and agrypnia excitata in fatal familial insomnia. J Neurol Sci, 367, 140-142. https://doi.org/10.1016/j.jns.2016.05.039

Donato, H., & Donato, M. (2019). [Stages for Undertaking a Systematic Review]. Acta Med Port, 32(3), 227-235. https://doi.org/10.20344/amp.11923 (Etapas na Condução de uma Revisão Sistemática.)

Froböse, T., Förstl, H., & Förschler, A. (2013). Fatal familial insomnia (FFI) complicated by posterior reversible encephalopathy syndrome (PRES). Clin Neuroradiol, 24(3), 289-291. https://doi.org/10.1007/s00062-013-0243-9

Fukuoka, T., Nakazato, Y., Yamamoto, M., Miyake, A., Mitsufuji, T., & Yamamoto, T. (2018). Fatal Familial Insomnia Initially Developing Parkinsonism Mimicking Dementia with Lewy Bodies. Intern Med, 57(18), 2719-2722. https://doi.org/10.2169/internalmedicine.0573-17

Galvão, T. F., Pansani, T. d. S. A., & Harrad, D. (2015). Principais itens para relatar Revisões sistemáticas e Meta-análises: A recomendação PRISMA. Epidemiologia e Serviços de Saúde, 24(2), 335-342. https://doi.org/10.5123/S1679-49742015000200017

Geschwind, M. D. (2015). Prion Diseases. Continuum (Minneap Minn), 21(6 Neuroinfectious Disease), 1612-1638. https://doi.org/10.1212/con.0000000000000251

Jansen, C., Parchi, P., Jelles, B., Gouw, A. A., Beunders, G., van Spaendonk, R. M., . . . Rozemuller, A. J. (2011). The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits. Neuropathol Appl Neurobiol, 37(5), 549-553. https://doi.org/10.1111/j.1365-2990.2010.01126.x

Khan, Z., & Bollu, P. C. (2021). Fatal Familial Insomnia. In StatPearls. StatPearls Publishing Copyright © 2021, StatPearls Publishing LLC.

Kim, M. O., Takada, L. T., Wong, K., Forner, S. A., & Geschwind, M. D. (2018). Genetic PrP Prion Diseases. Cold Spring Harb Perspect Biol, 10(5). https://doi.org/10.1101/cshperspect.a033134

Kovács, G. G., Puopolo, M., Ladogana, A., Pocchiari, M., Budka, H., van Duijn, C., . . . Mitrova, E. (2005). Genetic prion disease: the EUROCJD experience. Hum Genet, 118(2), 166-174. https://doi.org/10.1007/s00439-005-0020-1

Krasnianski, A., Sanchez Juan, P., Ponto, C., Bartl, M., Heinemann, U., Varges, D., . . . Zerr, I. (2014). A proposal of new diagnostic pathway for fatal familial insomnia. J Neurol Neurosurg Psychiatry, 85(6), 654-659. https://doi.org/10.1136/jnnp-2013-305978

Lee, M. J., Shin, J., Chung, E. J., Kim, S. J., Kwon, S., Kim, J. H., . . . Na, D. L. (2014). Midbrain hypometabolism in fatal familial insomnia: a case report and a statistical parametric mapping analysis of a korean family. In Case Rep Neurol (Vol. 6, pp. 243-250). https://doi.org/10.1159/000365412

Lima, J. E. E., Youn, T. S., Robinson, C., Gilmore, E. J., Schrag, M., Sanamandra, S., & Maciel, C. B. (2020). Clinical Reasoning: A 45-year-old man with progressive insomnia and psychiatric and motor symptoms. Neurology, 94(11), e1213-e1218. https://doi.org/10.1212/wnl.0000000000009098

Lindsley, C. W. (2017). Genetic and Rare Disease of the CNS. Part I: Fatal Familial Insomnia (FFI). ACS Chem Neurosci, 8(12), 2570-2572. https://doi.org/10.1021/acschemneuro.7b00463

Liu, L., Li, C., Yang, Q., Zhang, W., Liu, Y., & Zhu, H. (2017). Clinical and neuroimaging features of a Chinese patient with fatal familial insomnia. Sleep Med, 32, 280-281. https://doi.org/10.1016/j.sleep.2016.12.001

Llorens, F., Zarranz, J. J., Fischer, A., Zerr, I., & Ferrer, I. (2017). Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. Curr Neurol Neurosci Rep, 17(4), 30. https://doi.org/10.1007/s11910-017-0743-0

Lu, T., Pan, Y., Peng, L., Qin, F., Sun, X., Lu, Z., & Qiu, W. (2017). Fatal familial insomnia with abnormal signals on routine MRI: a case report and literature review. BMC Neurol, 17(1), 104. https://doi.org/10.1186/s12883-017-0886-2

Lugaresi, E., Medori, R., Montagna, P., Baruzzi, A., Cortelli, P., Lugaresi, A., . . . Gambetti, P. (1986). Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. N Engl J Med, 315(16), 997-1003. https://doi.org/10.1056/nejm198610163151605

Megelin, T., Thomas, B., Ferrer, X., & Ghorayeb, I. (2017). Fatal familial insomnia: a video-polysomnographic case report. Sleep Med, 33, 165-166. https://doi.org/10.1016/j.sleep.2017.02.015

Pedroso, J. L., Pinto, W. B., Souza, P. V., Ricarte, I. F., Landemberger, M. C., Martins, V. R., . . . Barsottini, O. G. (2013). Complex movement disorders in fatal familial insomnia: a clinical and genetic discussion. Neurology, 81(12), 1098-1099. https://doi.org/10.1212/WNL.0b013e3182a4a41d

Peng, B., Zhang, S., Dong, H., & Lu, Z. (2015). Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature. Int J Clin Exp Pathol, 8(9), 10171-10177.

Rupprecht, S., Grimm, A., Schultze, T., Zinke, J., Karvouniari, P., Axer, H., . . . Schwab, M. (2013). Does the clinical phenotype of fatal familial insomnia depend on PRNP codon 129 methionine-valine polymorphism? J Clin Sleep Med, 9(12), 1343-1345. https://doi.org/10.5664/jcsm.3286

Shi, Q., Zhou, W., Chen, C., Zhang, B. Y., Xiao, K., Zhang, X. C., . . . Dong, X. P. (2015). The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. PLoS One, 10(10), e0139552. https://doi.org/10.1371/journal.pone.0139552

Stevens, J. M., Levine, M. R., Constantino, A. E., & Motamedi, G. K. (2018). Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy. BMJ Case Rep, 2018. https://doi.org/10.1136/bcr-2018-225155

Sun, C., Xia, W., Liu, Y., Jia, G., Wang, C., Yan, C., & Li, Y. (2017). Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report. Medicine (Baltimore), 96(49), e8951. https://doi.org/10.1097/md.0000000000008951

Sun, L., Li, X., Lin, X., Yan, F., Chen, K., & Xiao, S. (2015). Familial fatal insomnia with atypical clinical features in a patient with D178N mutation and homozygosity for Met at codon 129 of the prion protein gene. Prion, 9(3), 228-235. https://doi.org/10.1080/19336896.2015.1054601

Takada, L. T., Kim, M. O., Metcalf, S., Gala, II, & Geschwind, M. D. (2018). Prion disease. Handb Clin Neurol, 148, 441-464. https://doi.org/10.1016/b978-0-444-64076-5.00029-6

Tham, W. Y., Thian, Y. L., Ratnagopal, P., & Xie, W. (2018). 18F-FDG PET Brain in a Patient With Fatal Familial Insomnia. Clin Nucl Med, 43(8), e274-e275. https://doi.org/10.1097/rlu.0000000000002152

Turpen, K., Thornbury, A., Wagner, M., Berry, R. B., Barretto, J., Williams, R., & Ryals, S. (2017). A Patient With Rapidly Progressing Early-Onset Dementia and Insomnia. J Clin Sleep Med, 13(11), 1363-1364. https://doi.org/10.5664/jcsm.6820

Yang, T. W., Park, B., Kim, K. T., Jun, J. S., Kim, Y. S., Lee, S. T., . . . Jung, K. Y. (2018). Fatal familial insomnia presenting with agrypnia excitata and very low atonia index level: A case report and literature review. Medicine (Baltimore), 97(18), e0646. https://doi.org/10.1097/md.0000000000010646

Published

30/10/2021

How to Cite

LUSTOSA, N. G.; SANTOS, L. B. dos; SOUSA, V. A. de; SILVA, Áthila G. F. da; RODRIGUES, C. N. da S.; DUARTE, G. G. de M.; SOARES, E. A. Fatal family insomnia’s prevalence index and main initial clinical manifestations. Research, Society and Development, [S. l.], v. 10, n. 14, p. e168101421719, 2021. DOI: 10.33448/rsd-v10i14.21719. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/21719. Acesso em: 16 jun. 2024.

Issue

Section

Review Article