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Updated: Jul 16, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Late-onset familial amyloid polyneuropathy in the Safor (Valencia) area: four case reports]
C Tornero Estébanez1, C Soriano Soriano, A Giménez Escrich
1Servicio de Medicina Interna, Hospital Francisco de Borja, Gandía, Valencia, Spain. Tornero_car@gva.es
Abstract:
Four cases of late onset familial amyloid polyneuropathy diagnosed in relatively advanced ages and within 3 families of our area where the disease had never been described are presented. The possible origin of the mutation and need to consider this diagnosis even when there is no known family background or when the age of presentation is late are commented. The nerve biopsy does not always show the deposits as these are patchy and DNA studies or detection of abnormal TTR in serum are necessary for the diagnosis.
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