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Familial Amyloid Polyneuropathy: Impact of Biopsies and Mutations on Diagnostic Considerations (P3.4-033)

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dc.contributor.author Gibbons, Christopher
dc.contributor.author González-Duarte, Alejandra
dc.contributor.author Barroso, Fabio Adrián
dc.contributor.author Campagnolo, Marta
dc.contributor.author Rajan, Sharika
dc.contributor.author Freeman, Roy
dc.date.accessioned 2020-12-16T16:27:19Z
dc.date.available 2020-12-16T16:27:19Z
dc.date.issued 2019-05-07
dc.identifier.citation Gibbons, C., Gonzalez-Duarte, A., Gonzalez-Duarte, A., Barroso, F.A., Campagnolo, M., Rajan, S., Freeman, R. Familial Amyloid Polyneuropathy: Impact of Biopsies and Mutations on Diagnostic Considerations (P3.4-033). Neurology. 2019;92(15 Supplement). P3.4-033. en_US
dc.identifier.uri https://n.neurology.org/content/92/15_Supplement/P3.4-033/tab-article-info
dc.identifier.uri https://repositorio.fleni.org.ar/handle/123456789/269
dc.description.abstract Objective: To characterize the symptoms, signs and skin biopsy neuropathological findings in a cohort of individuals with TTR Mutations. Background: Familial amyloid polyneuropathy is due to one of many mutations in the transthyretin(TTR) gene, resulting in a progressive fatal disease with sensory, motor and autonomic involvement. Design/Methods: Individuals with a variety of TTR mutations underwent detailed neurological examinations including the Neuropathy Impairment Score in the Lower Limb(NIS-LL), the Utah Early Neuropathy Score(UENS), Coutinho staging, autonomic testing, symptom scores (using the EuroQol, Brief Pain Symptom Inventory, and the orthostatic hypotension Questionnaire). All subjects had 3mm punch skin biopsies at the distal leg and distal thigh with analysis of amyloid burden by Congo Red, and neuropathy severity by staining with protein gene product 9.5. Results: A total of 88 subjects participated with the following TTR mutations: 43-Val30Met, 30-Ser50Arg, 6- Gly47Ala, 5- Ser52Pro, 2- F64L, 1- I73V and 1 with Y136H. Coutinho staging included 47 stage 0, 32 stage 1, 8 stage 2 and 1 stage 3. The diagnostic sensitivity for amyloid detection from a single skin biopsy was 72%, the diagnostic yield increased to 89% with 2 biopsies. Biopsies were positive for amyloid in 78% of individuals with no clinical evidence of neuropathy (NIS-LL scores of 0) and 94% for individuals with any evidence of neuropathy. Amyloid burden was inversely correlated with nerve density at the distal leg (R=0.59, P<0.01) and distal thigh(R=−0.53, P<0.01), and correlated with the NIS-LL (R=0.48, P<0.05), and UENS (R=0.49, P<0.05). Conclusions: Skin biopsy is a sensitive and specific pathological marker for tissue diagnosis of familial amyloid polyneuropathy across multiple mutations, even in individuals with no clinical evidence of disease. Amyloid burden correlates with neuropathy severity, both pathologically and by examination criteria; skin biopsies may prove informative for studies that seek to alter the natural history of the disease. en_US
dc.language.iso eng en_US
dc.publisher AAN en_US
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Amyloid Neuropathies, Familial en_US
dc.subject Neuropatías Amiloides Familiares en_US
dc.title Familial Amyloid Polyneuropathy: Impact of Biopsies and Mutations on Diagnostic Considerations (P3.4-033) en_US
dc.type info:eu-repo/semantics/publishedVersion
dc.type info:eu-repo/semantics/other en_US
dc.description.fil Fil: Gibbons, Christopher. Beth Israel Deaconess Medical Center; Estados Unidos.
dc.description.fil Fil: Gonzalez-Duarte, Alejandra. Instituto Nacional de Ciencias Medicas y Nutricion; México.
dc.description.fil Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina.
dc.description.fil Fil: Campagnolo, Marta. Institute of Experimental Neurology; Italia.
dc.description.fil Fil: Rajan, Sharika. Beth Israel Deaconess Medical Center; Estados Unidos.
dc.description.fil Fil: Freeman, Roy. Beth Israel Deaconess Medical Center; Estados Unidos.
dc.relation.ispartofVOLUME 92
dc.relation.ispartofNUMBER 15
dc.relation.ispartofCOUNTRY Estados Unidos
dc.relation.ispartofCITY Hagerstown
dc.relation.ispartofTITLE Neurology
dc.relation.ispartofISSN 1526-632X
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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