¿LA POLINEUROPATÍA AMILOIDÓTICA FAMILIAR CAUSA ALTERACIONES COGNITIVAS?
Palabras clave:
europatías Amiloides Familiares, Demencia, Pruebas de estado mental y demencia, Cognición, HerenciaResumen
Objetivo: El objetivo de este estudio fue evaluar las funciones cognitivas de pacientes con polineuropatía amiloide familiar seguidos en un hospital terciario de Fortaleza-CE. Métodos: se realizó un estudio transversal de enero a noviembre de 2019. La población estuvo conformada por pacientes con PAF confirmada mediante pruebas genéticas. El grupo de pacientes se comparó con el grupo de control. Para la evaluación cognitiva se utilizó el ACE-R (Revised Addenbrooke Cognitive Examination), FAB (Frontal Evaluation Battery) y Brief Cognitive Battery. Resultados: La población final estuvo constituida por 8 pacientes y 16 controles. Las puntuaciones de ACE-R, FAB, MMSE y las puntuaciones por área cognitiva específica fueron menores en el grupo de pacientes. Hubo una tendencia de peor desempeño en el grupo de pacientes en la memoria anterógrada. Conclusión: Nuestro estudio realizó la primera evaluación cognitiva en la población de Ceará de pacientes con PAF. La neuroimagen puede aportar más datos.
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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
2021-07-27
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Mesquita Torres D, Albuquerque de Brito L, Leite Rodrigues C, Cavalcante França Júnior M, Anízio Ferreira Frota N. ¿LA POLINEUROPATÍA AMILOIDÓTICA FAMILIAR CAUSA ALTERACIONES COGNITIVAS?. Cadernos ESP [Internet]. 27 de julio de 2021 [citado 3 de enero de 2025];15(1):18-24. Disponible en: https://cadernos.esp.ce.gov.br/index.php/cadernos/article/view/522
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Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
Recibido 2021-04-14
Aceptado 2021-05-31
Publicado 2021-07-27
Aceptado 2021-05-31
Publicado 2021-07-27
