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Updated: Sep 10, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
¿Una nueva mutación genética de la transtiretina está asociada con la angiopatía amiloide cerebral?
Strazzabosco Camilla1, Marinoni Giulia1, Storti Benedetta1
1Cerebrovascular Unit, Fondazione I.R.C.C.S. Istituto Neurologico "Carlo Besta", Milan, Italy.
Se encontró una nueva variante del gen transtiretina (TTR) vinculada exclusivamente a la angiopatía amiloide cerebral (CAA), no a la amiloidosis sistémica. Este descubrimiento destaca las variantes de TTR que causan patología amiloide específica del cerebro.
Área de la Ciencia:
- Neurogenética
- Neurología molecular
Sus antecedentes:
- La angiopatía amiloide cerebral (CAA) es un trastorno cerebrovascular caracterizado por la deposición de amiloide en las paredes de los vasos cerebrales.
- Las mutaciones del gen Transthyretin (TTR) son causas conocidas de amiloidosis sistémica, pero su papel en la AAC aislada es menos conocido.
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