Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

doi:10.1016/j.ejpn.2015.12.016

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Article

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Pavlidou Efterpi, Salpietro Vincenzo, Phadke Rahul, Hargreaves Iain P, Batten Leigh, McElreavy Kenneth, Pitt Matthew, Mankad Kshitij, Wilson Clare, Cutrupi Maria Concetta, Ruggieri Martino, McCormick David, Saggar Anand, Kinali Maria

Abstract excerpt

BACKGROUND: The term Pontocerebellar hypoplasias collectively refers to a group of rare, heterogeneous and progressive disorders, which are frequently inherited in an autosomal recessive manner and usually have a prenatal onset. Mutations in the SEPSECS gene, leading to deficiency in selenoprotein biosynthesis, have been identified in recent times as the molecular etiology of different pre/perinatal onset...

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PMID: 26805434
DOI: 10.1016/j.ejpn.2015.12.016

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SEPSECS

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