… the role of OPA1 in mitophagy in primary OPA1 mutant fibroblasts from 5 patients in 3 families
with … We also studied the effects of siRNA-mediated knockdown of OPA1 in primary human …

… the patients without mutations, cases with mutations in OPA1 were … nerve disease (p =
0.027); however, 30.4% of patients without a family history of disease also had mutations in OPA1. …

… mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information
of ADOA patients … of neurological symptoms (71%) in ADOA ‘plus’ patients with splicing …

… white matter changes in the central nervous system associated with a novel … , often presenting
earlier in life due to their more severe phenotypes [5, 6]. Homozygous OPA1 null mutations …

… OPA1 mutations are the most frequently found in patients with non-syndromic DOA, and to …
most prevalent axonal form of CMT (31, 132). CMT2A is a neurological disorder characterized …

… OPA1 mutations are not limited to the optic nerve. We have further extended the mutational
and phenotypic spectrum of OPA1 disease … homozygous missense mutation that targets the …

… have also been associated with other severe neurological conditions. Two sisters, … described
harboring biallelic OPA1 mutations, presenting with a complex neurological disorder. The …

… 2708_2711del showed abnormalities in OPA1 isoforms, … OPA1 mutation is needed for
clinical diagnosis of patients … a high level in human retina and optic nerve [6]. Pathogenic …

… The patients parents did not have any ophthalmic or neurologic symptoms and the results
of electrophysiological studies were normal, … heterozygous OPA1 mutations in a patient with …

… , with multisystem presentation, and are frequently challenging entities for the physicians.
Here we describe some complex neurological … associated with OPA1 missense mutations. Ann …