Profile of Huntington’s Disease patients in Brazil

Authors

DOI:

https://doi.org/10.33448/rsd-v11i7.29565

Keywords:

Huntington's Disease; Epidemiology; Brazil.

Abstract

Huntington's Disease is a progressive neurodegenerative disorder of genetic and autosomal dominant origin. In Brazil, there are no official data on the prevalence of Huntington's Disease, which can lead to difficulties in its diagnosis and in the multidisciplinary follow-up of the patient, so the objective of this study is to describe the profile of Huntington's Disease carriers in Brazil presenting difficulties for diagnosis and treatment of symptoms. The research was carried out by filling out an online questionnaire, using the Google Forms tool, by people with Huntington's Disease, family members or caregivers. We obtained 80 research participants, 55 female and 24 male. Most of them, 43.80%, are not aware of the amount of repetitions of the CAG nucleotides and 40% have 40 to 55 repetitions, which are related to the intensity of symptoms and age of onset. The most frequent initial symptoms were motor, present in 41.3% of the individuals, followed by 22.5% psychiatric, 27.5% had motor and psychiatric disorders, 3.8% cognitive and motor, 2.5% only of cognitive and 1.3% psychiatric and cognitive. Most users, both from the private health network and from the Unified Health System, are dissatisfied with the services offered to treat the symptoms of this disease. There is a need for greater dissemination of Huntington's Disease in the country in order to make molecular diagnosis accessible and multidisciplinary follow-up possible, thus improving the quality of life of patients.

References

Andrew, S. E., Paul Goldberg, Y., Kremer, B., Telenius, H., Theilmann, J., Adam, S., ... & Hayden, M. R. (1993). The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature genetics (4ª ed pp. 398-403).

Associação Brasil Huntington. (2021). Famílias cadastradas na ABH - Associação Brasil Huntington [Families registered with ABH - Associação Brasil Huntington.]. www.abh.org.br

Ross, R. A. C. (2014). Clinical Neurology. In Bates, G.; Tabrizi, S.; Jones, L, Huntington 's disease. (4ª ed. pp. 31-52). Oxford University Press. 10.1093/med/9780199929146.001.0001

Cazenueve, C.; Durr, A. (2014). Genetic and Molecular Studies. In Bates, G.; Tabrizi, S.; Jones, L, Huntington 's disease. (4ª ed. pp. 31-52). Oxford University Press. 10.1093/med/9780199929146.001.0001

Craufurd, D.; Snowden, J. S. (2014) Neuropsychiatry and neuropsychology. In Bates, G.; Tabrizi, S.; Jones, L, Huntington 's disease. (4ª ed. pp. 31-52). Oxford University Press. 10.1093/med/9780199929146.001.0001

Cleret de Langavant, L., Fenelon, G., Benisty, S., Boisse, M. F., Jacquemot, C., & Bachoud-Levi, A. C. (2013). Awareness of memory deficits in early stage Huntington's disease. PloS one, 8(4), e61676. https://doi.org/10.1371/journal.pone.0061676

Craufurd, D., Thompson, J. C., & Snowden, J. S. (2001). Behavioral changes in Huntington disease. Cognitive and Behavioral Neurology, 14(4), 219-226.

Dewhurst, K., Oliver, J. E., & McKnight, A. L. (1970). Socio-psychiatric consequences of Huntington's disease. The British Journal of Psychiatry, 116(532), 255-258. https://doi.org/10.1192/bjp.116.532.255

de Lima Santos, G., Schnadelbach, A. S., & de Azevedo Moreira, L. M. (2015). Aspectos atuais da realização de testes moleculares para a doença de Huntington em centros de pesquisa e laboratórios brasileiros [Current aspects of carrying out molecular tests for Huntington's disease in Brazilian research centers and laboratories]. Revista de Ciências Médicas e Biológicas, 14(1), 51-56. https://doi.org/10.9771/cmbio.v14i1.12241

dos Reis, C. E., & de Andrade, S. R. A IMIGRAÇÃO EUROPÉIA NOS DISCURSOS DA ELITE POLÍTICA BRASILEIRA [EUROPEAN IMMIGRATION IN THE SPEECH OF THE POLITICAL ELITE].

Eddy, C. M., & Rickards, H. E. (2015). Cognitive deficits predict poorer functional capacity in Huntington’s disease: But what is being measured?. Neuropsychology, 29(2), 268. https://doi.org/10.1037/neu0000134

Furtado, S., Suchowersky, O., Rewcastle, N. B., Graham, L., Klimek, M. L., & Garber, A. (1996). Relationship between trinucliotide repeats and neuropathological changes in Huntington's diease. Annals of neurology, 39(1), 132-136. https://doi.org/10.1002/ana.410390120

Guedes, C.; Diniz, D. Aconselhamento Genético e Bioética [Genetic Counseling and Bioethics]. (2009). In Quagliato, E. M.A.B.; Maeques, M.G.N. Doença de Huntington: guia para famílias e profissionais de saúde [Huntington's Disease: A Guide for Families and Healthcare Professionals]. (1ª ed., pp. 69-79). Associação Brasil Huntington.

Haddad, M.S. (2009) Introdução e Aspectos Clínicos [Introduction and Clinical Aspects]. In Quagliato, E. M.A.B.; Maeques, M.G.N. Doença de Huntington: guia para famílias e profissionais de saúde [Huntington's Disease: A Guide for Families and Healthcare Professionals]. (1ª ed., pp. 20-29). Associação Brasil Huntington.

Harper, P. S. The natural history of Huntington’s disease. (1991). In Huntington’s disease (pp. 127-139). W.B. Saunders Company Ltd.

Huntington, G. On chorea. (1872). Medical and Surgical Reporter, 26, 317-321.

Kay, C.; Fisher, E.; Hayden, M. R. (2014). Epidemiology. In Bates, G.; Tabrizi, S.; Jones, L, Huntington 's disease. (4ª ed. pp. 31-52). Oxford University Press.

Levorato, C. D., Mello, L. M. D., Silva, A. S. D., & Nunes, A. A. (2014). Fatores associados à procura por serviços de saúde numa perspectiva relacional de gênero [Factors associated with the demand for health services in a gender relational perspective]. Ciência & saúde coletiva, 19, 1263-1274. https://doi.org/10.1590/1413-81232014194.01242013

Lima e Silva, T. C., Serra, H. G., Bertuzzo, C. S., & LOPES-CENDES, I. S. C. I. A. (2000). Molecular diagnosis of Huntington disease in Brazilian patients. Arquivos de Neuro-Psiquiatria, 58, 11-17. https://doi.org/10.1590/S0004-282X2000000100002

Perandones, C.; Radrizzani, M.; Micheli, F. E. (2010). Molecular Mechanisms Involved in the Pathogenesis of Huntington Disease. In Visser, T. J. Huntington's Disease: Etiology and Symptoms, Diagnosis and Treatment. (Xª ed., pp. 1-38). Nova Science.

Pereira, L. P (2015). Estudo molecular da Doença de Huntington e correlações com as manifestações clínicas [Dissertação de mestrado não publicada]. Universidade Federal do Espírito Santo.

Persichetti, F., Srinidhi, J., Kanaley, L., Ge, P., Myers, R. H., D'Arrigo, K., ... & Bird, E. D. (1994). Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiology of disease. 1(3), 159-166. https://doi.org/10.1006/nbdi.1994.0019

Ross, R. A. C. (2014). Clinical Neurology. In Bates, G.; Tabrizi, S.; Jones, L, Huntington 's disease. (4ª ed. pp. 31-52). Oxford University Press. 10.1093/med/9780199929146.001.0001

Santos, É. G. D., & Siqueira, M. M. D. (2010). Prevalência dos transtornos mentais na população adulta brasileira: uma revisão sistemática de 1997 a 2009 [Prevalence of mental disorders in the Brazilian adult population: a systematic review from 1997 to 2009]. Jornal Brasileiro de Psiquiatria, 59(3), 238-246. https://doi.org/10.1590/S0047-20852010000300011

Silva, I. dos S. da. (2015). Investigação das repetições trinucleotídicas dos genes HTT e TBP em uma coorte de indivíduos brasileiros: correlação com a idade de início da doença de Huntington [Dissertação de mestrado não publicada]. Universidade Federal do Estado do Rio de Janeiro.

Snowden, J. S. (2017). The neuropsychology of Huntington's disease. Archives of Clinical Neuropsychology, 32(7), 876-887. https://doi.org/10.1093/arclin/acx086

Van Duijn, E., Kingma, E. M., & Van der Mast, R. C. (2007). Psychopathology in verified Huntington’s disease gene carriers. The Journal of neuropsychiatry and clinical neurosciences, 19(4), 441-448. https://doi.org/10.1176/jnp.2007.19.4.441

Published

15/05/2022

How to Cite

CARIMAN, M. O. R. .; SESTI, L. F. C. . Profile of Huntington’s Disease patients in Brazil . Research, Society and Development, [S. l.], v. 11, n. 7, p. e6511729565, 2022. DOI: 10.33448/rsd-v11i7.29565. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/29565. Acesso em: 5 nov. 2024.

Issue

Section

Health Sciences