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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).
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]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran‐Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).
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  Data: 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]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/ene.70657
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        Text: English
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      – SubjectFull: Therapeutics
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