Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6016555 | European Journal of Paediatric Neurology | 2016 | 6 Pages |
Abstract
This report further corroborates the notion of a potential secondary mitochondrial dysfunction in the context of selenoprotein biosynthesis deficiency and also adds optic nerve atrophy as a new potential clinical feature within the SEPSECS-associated clinical spectrum. These findings suggest the presence of a possible shared genetic etiology among similar clinical entities characterized by the combination of progressive cerebello-cerebral and optic nerve atrophy and also stress the biological importance of selenoproteins in the regulation of neuronal and metabolic homeostasis.
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Authors
Efterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke, Iain P. Hargreaves, Leigh Batten, Kenneth McElreavy, Matthew Pitt, Kshitij Mankad, Clare Wilson, Maria Concetta Cutrupi, Martino Ruggieri, David McCormick, Anand Saggar, Maria Kinali,