ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy,Annals of Neurology

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ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy
Annals of Neurology ( IF 8.1 ) Pub Date : 2020-04-21 , DOI: 10.1002/ana.25723
Leonardo Caporali ₁ , Stefania Magri ₂ , Andrea Legati ₂ , Valentina Del Dotto ₃ , Francesca Tagliavini ₁ , Francesca Balistreri ₂ , Alessia Nasca ₂ , Chiara La Morgia _{1,

3} , Michele Carbonelli ₁ , Maria L Valentino _{1,

3} , Eleonora Lamantea ₂ , Silvia Baratta ₂ , Ludger Schöls _{4,

5} , Rebecca Schüle _{4,

5} , Piero Barboni _{6,

7} , Maria L Cascavilla ₇ , Alessandra Maresca ₁ , Mariantonietta Capristo ₁ , Anna Ardissone ₈ , Davide Pareyson ₉ , Gabriella Cammarata ₁₀ , Lisa Melzi ₁₀ , Massimo Zeviani ₁₁ , Lorenzo Peverelli ₁₂ , Costanza Lamperti ₂ , Stefania B Marzoli ₁₀ , Mingyan Fang ₁₃ , Matthis Synofzik _{4,

5} , Daniele Ghezzi _{2,

14} , Valerio Carelli _{1,

3} , Franco Taroni ₂

Affiliation

IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neurology Unit, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
German Center for Neurodegenerative Diseases, Tübingen, Germany.
Studio Oculistico D'Azeglio, Bologna, Italy.
IRCCS Ospedale San Raffaele, Milan, Italy.
Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy.
Department of Neuroscience, University of Padua, Padua, Italy.
Neurology Unit, Azienda Socio Sanitaria Territoriale Lodi, Ospedale Maggiore di Lodi, Lodi, Italy.
Beijing Genomics Institute-Shenzhen, Shenzhen, China.
Department of Medical-Surgical Physiopathology and Transplantation, University of Milan, Milan, Italy.

Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed.

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