POLINEUROPATIA AMILOIDÓTICA FAMILIAR OCASIONA ALTERAÇÕES COGNITIVAS?
Palavras-chave:
Neuropatias Amiloidoses Familiares, Demência, Testes de Estado Mental e Demência, Cognição, HereditariedadeResumo
Objetivo: O objetivo desse estudo foi avaliar as funções cognitivas dos pacientes portadores de polineuropatia amiloidótica familiar (PAF) acompanhados em um hospital terciário de Fortaleza- CE. Métodos: Foi realizado estudo de corte transversal de Janeiro- Novembro de 2019. A população consistiu de pacientes portadores de PAF confirmada por meio de teste genético. O grupo de pacientes foi comparado ao grupo controle. Para a avaliação cognitiva, a ACE-R (Revised Addenbrooke Cognitive Examination), FAB (Bateria de Avaliação Frontal) e Bateria Cognitiva Breve foram utilizadas. Resultados: A população final constituiu-se de 8 pacientes. Os escores de ACE-R, FAB, MMSE e escores por área cognitiva específica foram menores no grupo de pacientes. Houve tendência de pior desempenho em memória anterógrada no grupo de pacientes. Conclusão: Nosso estudo realizou a primeira avaliação cognitiva na população cearense portadora de PAF. Neuroimagem pode trazer dados adicionais.
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Referências
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6. Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, et al. Epi-demilogy of familial amyloid polyneuropathy in Japan: Identification of a novel en-demic focus. Journal of the neurological sciences 2008 Jul 15; 270: 133-140. DOI: 10.1016/j.jns.2008.02.019
7. Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloido-tic olyneuropathy (FAP)- type I in Povoa do Varzim and Vila do Conde (nrth of Por-tugal). American Journal of Medical Genetics 1995. Dec 18; 60 (6): 512- 521. DOI: 10.1002/ajmg.1320600606
8. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993 Sep- Oct; 43 (5): 288- 294. DOI: 10.1159/000154146
9. Parman Y, Adams D, Obici L, Galan L, Guergueltchera V, Suhr O, et al. 60 years of TTR-FAP in Europe- where are we now? A Europe Network approach to definig the epidemiology and management patters for transthyretin familia amyloid polyneurop-athy Current opinion in neurology submitted. DOI:10.1097/WCO.0000000000000288.
10. Zhen DB, Swiecicki PL, Zeldenrust SR, Dispenzieri A, Mauermann ML, Gertz MA. Frequencies and geographic distribution of genetic mutations in transthyretin- and non- transthyretin- related familial amyloidosis. Clin Genet 2015 Oct; 88 (4): 396- 400. DOI: 10.1111/cge.12500
11. Cruz MW. Regional differences and similarities of familial amyloidotic polyneuropa-thy (FAP) presentation in Brazil. Amyloid 2012; 19: 65-67. DOI: 10.3109/13506129.2012.673183
12. Lavigne- Moreira C, Marques VD, Gonçalves MVM, Oliveira FO, Tomaselli PJ, Nunez JC. Nascimento OJM, Barreira AA, Marques W. The genetic heterogeneity oh hereditary transthyretin amyloidosis in a sample of the Brazilian population. Journal of the Peripheral Nervous System 2018; (23): 134-137. DOI: 10.1111/jns.12259
13. Misu K et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met 30- associated familial amyloid polyneuropathy) unrelated to endemic focus in Ja-pan. Brain; 1999 (122): 1951-1962. DOI: 10.1093/brain/122.10.1951
14. Maia LF, Magalhães R, Freitas J, et al. CNS involvemente in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neuro-surg Psychiatry, 2015; 86: 159-167. DOI: 10.1136/jnnp-2014-308107
15. Martins da Silva A, Cavaco S, Fernandes J, Samões R, Alves C, Mardoso M, Kelly JW, Monteiro C, Coelho T. Age-dependent cognitive dysfunction in untreated here-ditary transthyretin amyloidosis. Journal of Neurology, 2018 Feb; 265 (2): 299-3017. DOI: 10.1007/s00415-017-8668-8.
16. Freitas Castro V, Alves PN, Franco AC, Martins IP, Conceição I. Cognitive impair-ment in liver transplanted patients with transthyretin-related hereditary amyloid pol-yneuropathy. Amyloid 2017 Jun; 24 (92): 110-114. DOI: 10.1080/13506129.2017.1335639.
2. Palaninathan SK. Nearly 200 X-ray crystal structures of transthyretin; what do they tell us about this protein and the design of drugs for TRR amyloidosis? Curr Med Chem 2012; 19 (15): 2324-42. DOI: 10.2174/092986712800269335
3. Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneu-ropathy: a randomized clinical trial. Jama 2013; 310 (24): 2658- 2667. DOI: 10.1001/jama.2013.283815
4. Coelho T, Maurer MS, Suhr OB, THAOS- The transthyretin amyloidosis outcomes survey: initial report on clinical manifestations in patients with hereditary and wildtype transthyretin amyloidosis. Curr Med Res Opin 2013; 29 (1): 63-76. DOI: 10.1185/03007995.2012.754348
5. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular patho-genesis and diseade-modifying treatments. J Neurol Neurosurg Psychiatry 2015; 86: 1036- 1043. DOI 10.1136/jnnp-2014-308724
6. Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, et al. Epi-demilogy of familial amyloid polyneuropathy in Japan: Identification of a novel en-demic focus. Journal of the neurological sciences 2008 Jul 15; 270: 133-140. DOI: 10.1016/j.jns.2008.02.019
7. Sousa A, Coelho T, Barros J, Sequeiros J. Genetic epidemiology of familial amyloido-tic olyneuropathy (FAP)- type I in Povoa do Varzim and Vila do Conde (nrth of Por-tugal). American Journal of Medical Genetics 1995. Dec 18; 60 (6): 512- 521. DOI: 10.1002/ajmg.1320600606
8. Sousa A, Andersson R, Drugge U, Holmgren G, Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 1993 Sep- Oct; 43 (5): 288- 294. DOI: 10.1159/000154146
9. Parman Y, Adams D, Obici L, Galan L, Guergueltchera V, Suhr O, et al. 60 years of TTR-FAP in Europe- where are we now? A Europe Network approach to definig the epidemiology and management patters for transthyretin familia amyloid polyneurop-athy Current opinion in neurology submitted. DOI:10.1097/WCO.0000000000000288.
10. Zhen DB, Swiecicki PL, Zeldenrust SR, Dispenzieri A, Mauermann ML, Gertz MA. Frequencies and geographic distribution of genetic mutations in transthyretin- and non- transthyretin- related familial amyloidosis. Clin Genet 2015 Oct; 88 (4): 396- 400. DOI: 10.1111/cge.12500
11. Cruz MW. Regional differences and similarities of familial amyloidotic polyneuropa-thy (FAP) presentation in Brazil. Amyloid 2012; 19: 65-67. DOI: 10.3109/13506129.2012.673183
12. Lavigne- Moreira C, Marques VD, Gonçalves MVM, Oliveira FO, Tomaselli PJ, Nunez JC. Nascimento OJM, Barreira AA, Marques W. The genetic heterogeneity oh hereditary transthyretin amyloidosis in a sample of the Brazilian population. Journal of the Peripheral Nervous System 2018; (23): 134-137. DOI: 10.1111/jns.12259
13. Misu K et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met 30- associated familial amyloid polyneuropathy) unrelated to endemic focus in Ja-pan. Brain; 1999 (122): 1951-1962. DOI: 10.1093/brain/122.10.1951
14. Maia LF, Magalhães R, Freitas J, et al. CNS involvemente in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neuro-surg Psychiatry, 2015; 86: 159-167. DOI: 10.1136/jnnp-2014-308107
15. Martins da Silva A, Cavaco S, Fernandes J, Samões R, Alves C, Mardoso M, Kelly JW, Monteiro C, Coelho T. Age-dependent cognitive dysfunction in untreated here-ditary transthyretin amyloidosis. Journal of Neurology, 2018 Feb; 265 (2): 299-3017. DOI: 10.1007/s00415-017-8668-8.
16. Freitas Castro V, Alves PN, Franco AC, Martins IP, Conceição I. Cognitive impair-ment in liver transplanted patients with transthyretin-related hereditary amyloid pol-yneuropathy. Amyloid 2017 Jun; 24 (92): 110-114. DOI: 10.1080/13506129.2017.1335639.
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Publicado
27-07-2021
Como Citar
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Mesquita Torres D, Albuquerque de Brito L, Leite Rodrigues C, Cavalcante França Júnior M, Anízio Ferreira Frota N. POLINEUROPATIA AMILOIDÓTICA FAMILIAR OCASIONA ALTERAÇÕES COGNITIVAS?. Cadernos ESP [Internet]. 27º de julho de 2021 [citado 3º de janeiro de 2025];15(1):18-24. Disponível em: https://cadernos.esp.ce.gov.br/index.php/cadernos/article/view/522
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Copyright (c) 2021 Cadernos ESP
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
Received 2021-04-14
Accepted 2021-05-31
Published 2021-07-27
Accepted 2021-05-31
Published 2021-07-27
