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Elsevier, Journal of the Neurological Sciences, 1-2(315), p. 146-149, 2012

DOI: 10.1016/j.jns.2011.12.002

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Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

Journal article published in 2012 by Michela Ranieri, Roberto Del Bo, Andreina Bordoni, Dario Ronchi, Irene Colombo, Giulietta Riboldi, Alessandra Cosi, Maura Servida, Francesca Magri, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi ORCID, Stefania Corti ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60–70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called “OPA1 plus” phenotype presenting, at muscle level, mitochondrial DNA (mtDNA) instability.