Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran‐Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).
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| Title: | Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran‐Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly). |
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| Authors: | Ceccanti, Marco (AUTHOR), Guaraldi, Pietro (AUTHOR), Romano, Angela (AUTHOR), Antonini, Giovanni (AUTHOR), Barilaro, Alessandro (AUTHOR), Briani, Chiara (AUTHOR), Burattini, Marco (AUTHOR), Gianoli, Micol (AUTHOR), Carlini, Giulia (AUTHOR), Cianci, Vittoria (AUTHOR), Dossi, Marco Currò (AUTHOR), Di Lisi, Daniela (AUTHOR), Di Muzio, Antonio (AUTHOR), Ratti, Adele (AUTHOR), Filosto, Massimiliano (AUTHOR), Gasverde, Sabrina (AUTHOR), Gemelli, Chiara (AUTHOR), Gentile, Luca (AUTHOR), Goglia, Mariangela (AUTHOR), Leonardi, Luca (AUTHOR) |
| Source: | European Journal of Neurology. Jun2026, Vol. 33 Issue 6, p1-10. 10p. |
| Subjects: | Genetic mutation, Therapeutics, Longitudinal method, Cohort analysis, Cardiological manifestations of general diseases, Neurologic manifestations of general diseases, Amyloid |
| Geographic Terms: | Italy |
| Abstract: | Background: The F64L variant is among the most frequent TTR mutations in Italy, typically associated with a predominantly neurologic phenotype and limited cardiac involvement. Methods: Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. Neurologic impairment scores, Norfolk QoL‐DN, and cardiac parameters were compared between F64L (n = 56), V30M (n = 37), and non‐F64L (n = 125) patients at baseline and during follow‐up. Cluster analysis was applied to identify patient subgroups based on these variables. Results: F64L represented 30.9% of the cohort. Compared to non‐F64L patients, F64L patients had a higher prevalence of neurologic onset and neurologic phenotype, a thinner interventricular septum, and lower NT‐proBNP levels. Cluster analysis segregated patients into two distinct groups, predominantly reflecting F64L vs. non‐F64L status and corresponding neurologic severity. F64L patients showed milder cardiac involvement compared to V30M patients. Longitudinal repeated‐measures ANOVA showed stable clinical and instrumental measures. Conclusions: F64L is characterized by predominant neurologic involvement and milder cardiac involvement in this Patisiran‐treated cohort. Mutation‐specific diagnostic and follow‐up strategies are essential to capture its natural history and treatment response. [ABSTRACT FROM AUTHOR] |
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| Database: | Psychology and Behavioral Sciences Collection |
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| Abstract: | Background: The F64L variant is among the most frequent TTR mutations in Italy, typically associated with a predominantly neurologic phenotype and limited cardiac involvement. Methods: Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. Neurologic impairment scores, Norfolk QoL‐DN, and cardiac parameters were compared between F64L (n = 56), V30M (n = 37), and non‐F64L (n = 125) patients at baseline and during follow‐up. Cluster analysis was applied to identify patient subgroups based on these variables. Results: F64L represented 30.9% of the cohort. Compared to non‐F64L patients, F64L patients had a higher prevalence of neurologic onset and neurologic phenotype, a thinner interventricular septum, and lower NT‐proBNP levels. Cluster analysis segregated patients into two distinct groups, predominantly reflecting F64L vs. non‐F64L status and corresponding neurologic severity. F64L patients showed milder cardiac involvement compared to V30M patients. Longitudinal repeated‐measures ANOVA showed stable clinical and instrumental measures. Conclusions: F64L is characterized by predominant neurologic involvement and milder cardiac involvement in this Patisiran‐treated cohort. Mutation‐specific diagnostic and follow‐up strategies are essential to capture its natural history and treatment response. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 13515101 |
| DOI: | 10.1111/ene.70657 |
