Clinical and Genotypic Spectrum of Twinkle-Related Disorders

This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials.

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Publication Details

Journal
Neurology
Published
2026-01-15
DOI
https://doi.org/10.1212/wnl.0000000000214401
Primary Topic
Assisted Reproductive Technology and Twin Pregnancy
Type
article
Field-Weighted Citation Impact
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article

Clinical and Genotypic Spectrum of Twinkle-Related Disorders

Manuel Schiff, Gian Nicola Gallus, S. Servidei, Matteo Azzimonti et al.
Neurology
Assisted Reproductive Technology and Twin Pregnancy
article

Clinical and Genotypic Spectrum of Twinkle-Related Disorders

Manuel Schiff, Gian Nicola Gallus, S. Servidei, Matteo Azzimonti, T Klopstock, Ignazio Giuseppe Arena, Jean‐Baptiste Chanson, Sumit Parikh, Piervito Lopriore, Dario Ronchi, M. Hirano, L. Caporali, Annabelle Chaussenot, Francesca Magri, Marco Percetti, Gıancarlo Comı, Emmanuelle Salort‐Campana, Guido Primiano, Mariantonietta Maioli, E. Bieth, H. Prokisch, Maria Lucia Valentino, Vincenzo Montano, Boriana Büchner, Alessio Di Fonzo, Giulia Cecchi, Sabrina Sacconi, Aleksandra Nadaj‐Pakleza, V. Paquis-Flucklinger, Amy Goldstein, Bello Luca, Costanza Lamperti, Elena Pegoraro, Valerio Carelli, Valeria Nicoletta, Cécile Rouzier, Pauline Gaignard, Amel Karaa, Vincent Procaccio, Maria Judit Molnar, Stéphanie Robin, Juan Luis Restrepo Vera, Cristina Domínguez-González, Samira Ait-El-Mkadem Saadi, John Vissing, Andoni Echaniz-Laguna, Laura Bermejo-Guerrero, Alessandro Malandrini, Zeynep Ünlütürk, Fanny Duval, Gabriele Siciliano, Agnès Rötig, Annick Toutain, Olimpia Musumeci, Richard Haas
article en

Abstract

This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials.

NeurologyVol. 106(3)
Semmelweis University (HU), University of Siena (IT), Università Cattolica del Sacro Cuore (IT), University of Pisa (IT), Université de Tours (FR), University of Messina (IT), University of Copenhagen (DK), Hôpital Necker-Enfants Malades (FR), Centre National de la Recherche Scientifique (FR), Cleveland Clinic (US), Lucile Packard Children's Hospital (US), Children's Hospital of Philadelphia (US), University of Padua (IT), Université de Bordeaux (FR), Inserm (FR), Scuola Superiore Sant'Anna (IT), University of Ferrara (IT), Université Paris Cité (FR), Université Paris-Saclay (FR), Columbia University Irving Medical Center (US), German Center for Neurodegenerative Diseases (DE), Agostino Gemelli University Polyclinic (IT), Copenhagen University Hospital (DK), Rigshospitalet (DK), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), Helmholtz Zentrum München (DE), Centre Hospitalier Universitaire de Bordeaux (FR), Centre Hospitalier Universitaire de Nice (FR), Research Institute Hospital 12 de Octubre (ES), Institut de génétique et de biologie moléculaire et cellulaire (FR), Ospedale Maggiore (IT), Rady Children's Hospital-San Diego (US), Centre Hospitalier Universitaire de La Réunion (RE), Massachusetts General Hospital (US), Ospedale degli Infermi (IT), Centre Hospitalier Universitaire de Tours (FR), Children's Hospital Colorado (US), Assistance Publique – Hôpitaux de Paris (FR), Hospital Universitario 12 De Octubre (ES), Bordeaux Population Health (FR), Nerve Centre (GB), Hôpital Pellegrin (FR), Munich Cluster for Systems Neurology (DE), German Center for Infection Research (DE), Institute of Human Genetics (PL), Institut de Recherche sur le Cancer et le Vieillissement de Nice (FR), Istituto delle Scienze Neurologiche di Bologna (IT), German Centre for Cardiovascular Research (DE), Vall d'Hebron Hospital Universitari (ES), Sağlık Bilimleri Üniversitesi (TR), Friedrich Baur Stiftung (DE), Azienda Ospedaliera Universitaria Senese (IT), Hôpital Purpan (FR), Hôpitaux Universitaires de Strasbourg (FR), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Hôpital de la Timone (FR), Bicêtre Hospital (FR), Fondazione IRCCS Istituto Neurologico Carlo Besta (IT), Institut des Maladies Génétiques Imagine (FR), Université d'Angers (FR), Kocaeli Üniversitesi (TR), Université de Strasbourg (FR), University of Brescia (IT), Ludwig-Maximilians-Universität München (DE), University of Colorado Denver (US), University of Bologna (IT)
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Assisted Reproductive Technology and Twin Pregnancy
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