Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin

Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant involvement of the peripheral nervous system. More...

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Autores principales: Conti, Eugenia, Menazzi, Sebastián, Finkelsteyn, Ana Mariel, Figuerola, María de Lourdes
Formato: Artículo revista
Lenguaje:Inglés
Publicado: Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2024
Materias:
prealbumin
amyloidosis, familial
amyloid neuropathies
prealbúmina
amiloidosis familiar
neuropatías amiloides
pré-albumina
amiloidose familiar
neuropatias amiloides
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/40992
Aporte de:
Revista de la Facultad de Ciencias Médicas de Córdoba de Universidad Nacional de Córdoba
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institution Universidad Nacional de Córdoba
institution_str I-10
repository_str R-327
container_title_str Revista de la Facultad de Ciencias Médicas de Córdoba
language Inglés
format Artículo revista
topic prealbumin
amyloidosis, familial
amyloid neuropathies
prealbúmina
amiloidosis familiar
neuropatías amiloides
pré-albumina
amiloidose familiar
neuropatias amiloides
spellingShingle prealbumin
amyloidosis, familial
amyloid neuropathies
prealbúmina
amiloidosis familiar
neuropatías amiloides
pré-albumina
amiloidose familiar
neuropatias amiloides
Conti, Eugenia
Menazzi, Sebastián
Finkelsteyn, Ana Mariel
Figuerola, María de Lourdes
Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
topic_facet prealbumin
amyloidosis, familial
amyloid neuropathies
prealbúmina
amiloidosis familiar
neuropatías amiloides
pré-albumina
amiloidose familiar
neuropatias amiloides
author Conti, Eugenia
Menazzi, Sebastián
Finkelsteyn, Ana Mariel
Figuerola, María de Lourdes
author_facet Conti, Eugenia
Menazzi, Sebastián
Finkelsteyn, Ana Mariel
Figuerola, María de Lourdes
author_sort Conti, Eugenia
title Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
title_short Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
title_full Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
title_fullStr Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
title_full_unstemmed Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin
title_sort late-onset familial amyloidosis polyneuropathy associated with c.186g>c in transthyretin
description Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant involvement of the peripheral nervous system. More than 130 pathogenic variants have been identified so far and most of them are amyloidogenic, being Val30Met the most frequently described. Case report: A 74 year-old male was evaluated for progressive decreased sensitivity and associated loss of strength in four limbs in the previous two years, needing assistance for walking. Areflexia, bilateral tibialis anterior and gastrocnemius atrophy, bilateral anesthesia and apalesthesia were found in lower limbs. Bilateral hypoesthesia was reported in upper limbs. No painful dysesthesia, hyperalgesia or allodynia were found. DNA sequencing of the TTR gene led to the detection of the variant c.186G>C in heterozygous state. The resulting variant (Glu62Asp), located in the critical functional domain, has not been published before. Conclusion: The importance of considering late onset, sporadic FAP-TTR as a differential diagnosis of cryptogenic polyneuropathy is highlighted.
publisher Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
publishDate 2024
url https://revistas.unc.edu.ar/index.php/med/article/view/40992
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spelling I10-R327-article-409922024-05-02T14:44:50Z Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin Polineuropatía amiloidótica familiar tardía asociada con la variante c.186G>C en el gen transtiretina Polineuropatia amiloidósica familiar tardia e variante c.186G>C na transtiretina Conti, Eugenia Menazzi, Sebastián Finkelsteyn, Ana Mariel Figuerola, María de Lourdes prealbumin amyloidosis, familial amyloid neuropathies prealbúmina amiloidosis familiar neuropatías amiloides pré-albumina amiloidose familiar neuropatias amiloides Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant involvement of the peripheral nervous system. More than 130 pathogenic variants have been identified so far and most of them are amyloidogenic, being Val30Met the most frequently described. Case report: A 74 year-old male was evaluated for progressive decreased sensitivity and associated loss of strength in four limbs in the previous two years, needing assistance for walking. Areflexia, bilateral tibialis anterior and gastrocnemius atrophy, bilateral anesthesia and apalesthesia were found in lower limbs. Bilateral hypoesthesia was reported in upper limbs. No painful dysesthesia, hyperalgesia or allodynia were found. DNA sequencing of the TTR gene led to the detection of the variant c.186G>C in heterozygous state. The resulting variant (Glu62Asp), located in the critical functional domain, has not been published before. Conclusion: The importance of considering late onset, sporadic FAP-TTR as a differential diagnosis of cryptogenic polyneuropathy is highlighted. Introducción: La forma más común de amiloidosis hereditaria está asociada con variantes de la transtiretina. La polineuropatía amiloidótica familiar asociada con variantes de la TTR (FAP-TTR) es una enfermedad multisistémica poco frecuente, con afectación predominante del sistema nervioso periférico. Hasta ahora se han identificado más de 130 variantes patogénicas y la mayoría de ellas son amiloidogénicas, siendo Val30Met la más frecuentemente descrita. Caso clínico: Un paciente de 74 años fue evaluado por disminución progresiva de la sensibilidad y pérdida asociada de fuerza en las cuatro extremidades de dos años de evolución, necesitando ayuda para caminar. En las extremidades inferiores se observó arreflexia, atrofia bilateral del tibial anterior y del gastrocnemio, anestesia bilateral y apalestesia. Los miembros superiores presentaban hipoestesia bilateral. No se observaron disestesias dolorosas, hiperalgesia ni alodinia. La secuenciación del ADN del gen TTR permitió detectar la variante c.186G>C en estado heterocigoto. La variante resultante (Glu62Asp), localizada en el dominio funcional crítico de la proteína, no ha sido informada con anterioridad. Conclusión: Se destaca la importancia de considerar la FAP-TTR esporádica de aparición tardía como un diagnóstico diferencial de la polineuropatía criptogénica. Introdução: A forma mais comum de amiloidose hereditária está associada às variantes da transtiretina. A polineuropatia amiloidótica familiar associada às variantes TTR (FAP-TTR) é uma doença multisistêmica rara com envolvimento predominante do sistema nervoso periférico. Mais de 130 variantes patogênicas foram identificadas até agora e a maioria delas são amiloidogênicas, sendo o Val30Met o mais frequentemente descrito. Relato de caso: Um paciente masculino de 74 anos de idade foi avaliado por diminuição progressiva da sensibilidade e perda de força associada em quatro membros nos dois anos anteriores, necessitando de assistência para caminhar. Foram encontradas areflexia, atrofia do tibialis anterior bilateral e o gastrocnemio, anestesia bilateral e apalestesia nos membros inferiores. Hipoestesia bilateral foi relatada em membros superiores. Não foram encontradas disestesia dolorosa, hiperalgesia ou alodinia. A sequenciação do DNA do gene TTR levou à detecção da variante c.186G>C em estado heterozigoto. A variante resultante (Glu62Asp), localizada no domínio funcional crítico, não foi publicada anteriormente. Conclusão: A importância de considerar o FAP-TTR esporádico tardio como um diagnóstico diferencial da polineuropatia criptogênica é destacada. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2024-03-27 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Text text/html application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/40992 10.31053/1853.0605.v81.n1.40992 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 81 No. 1 (2024); 167-177 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 81 Núm. 1 (2024); 167-177 Revista da Faculdade de Ciências Médicas de Córdoba; v. 81 n. 1 (2024); 167-177 1853-0605 0014-6722 10.31053/1853.0605.v81.n1 eng https://revistas.unc.edu.ar/index.php/med/article/view/40992/44883 https://revistas.unc.edu.ar/index.php/med/article/view/40992/44771 Derechos de autor 2024 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0

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