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BackgroundBackground: Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives Objectives: To fully characterize, both phenotypically and genotypically, NDUFA12-related mitochondrial disease. Methods Methods: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. ResultsResults: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. Conclusions Conclusions: Our case series expands phenotype-genotype correlations in NDUFA12-associated mitochondrial disease, providing evidence of intra-and inter-familial clinical heterogeneity for the same variant. It confirms

Knowledge gained with the cadaveric fiber dissection technique can be applied in microsurgical practice and can be used to evaluate the surgical treatment for different tumors and vascular malformations.

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Loss-of-function biallelic variants were associated with a severer phenotype characterized, in 2016, by encephalopathy, intellectual disability, central hypotonia, psychomotor delay, chorea, and optic atrophy, akin to mitochondrial diseases, without broader systemic involvement. A subsequent study from 2018, described 11 individuals with ATP8A2 mutations, figuring hearing loss and cerebellar ataxia with or without cerebellar atrophy in some patients. 1 Heidari et al 4 proposed an ATP8A2 phenotype expansion to include dystonia, below average head circumference, mild optic atrophy, developmental delay, and teeth abnormalities.This paper describes a new pathogenic variant in the ATP8A2 gene, disclosing a complex phenotype, which can mimicry a mitochondrial disease minus multisystemic impairment. In patients presenting with developmental delay, optic atrophy, bilateral ptosis, movement disorders, and cerebellar ataxia, ATP8A2 mutations must feature in differential diagnosis.