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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| Language: | English |
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Universidad Nacional de Córdoba
2024-03-01
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| Series: | Revista de la Facultad de Ciencias Médicas de Córdoba |
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| Online Access: | https://revistas.unc.edu.ar/index.php/med/article/view/40992 |
| _version_ | 1827304714241310720 |
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| author | Eugenia Conti Sebastián Menazzi Ana Mariel Finkelsteyn María de Lourdes Figuerola |
| author_facet | Eugenia Conti Sebastián Menazzi Ana Mariel Finkelsteyn María de Lourdes Figuerola |
| author_sort | Eugenia Conti |
| collection | DOAJ |
| 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.
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| first_indexed | 2024-04-24T17:43:46Z |
| format | Article |
| id | doaj.art-45023f87c46b4de0bcfdd1556c73fd3b |
| institution | Directory Open Access Journal |
| issn | 0014-6722 1853-0605 |
| language | English |
| last_indexed | 2024-04-24T17:43:46Z |
| publishDate | 2024-03-01 |
| publisher | Universidad Nacional de Córdoba |
| record_format | Article |
| series | Revista de la Facultad de Ciencias Médicas de Córdoba |
| spelling | doaj.art-45023f87c46b4de0bcfdd1556c73fd3b2024-03-27T19:14:01ZengUniversidad Nacional de CórdobaRevista de la Facultad de Ciencias Médicas de Córdoba0014-67221853-06052024-03-0181110.31053/1853.0605.v81.n1.40992Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretinEugenia Conti0Sebastián Menazzi1Ana Mariel Finkelsteyn2María de Lourdes Figuerola3División Neurología, Hospital de Clínicas “José de San Martín”, Buenos Aires. ArgentinaDivisión Genética, Hospital de Clínicas “José de San Martín”, Buenos Aires. ArgentinaDivisión Neurología, Hospital de Clínicas “José de San Martín”, Buenos Aires. ArgentinaDivisión Neurología, Hospital de Clínicas “José de San Martín”, Buenos Aires. Argentina 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. https://revistas.unc.edu.ar/index.php/med/article/view/40992prealbuminamyloidosis, familialamyloid neuropathies |
| spellingShingle | Eugenia Conti Sebastián Menazzi Ana Mariel Finkelsteyn María de Lourdes Figuerola Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin Revista de la Facultad de Ciencias Médicas de Córdoba prealbumin amyloidosis, familial amyloid neuropathies |
| title | 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_short | 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 |
| topic | prealbumin amyloidosis, familial amyloid neuropathies |
| url | https://revistas.unc.edu.ar/index.php/med/article/view/40992 |
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