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Article

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2017

Rubegni Anna, Pisano Tiziana, Bacci Giacomo, Tessa Alessandra, Battini Roberta, Procopio Elena, Giglio Sabrina, Pasquariello Rosa, Santorelli Filippo Maria, Guerrini Renzo, Nesti Claudia

Abstract excerpt

Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in...

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Source

Identifiers

PMID: 28442211
DOI: 10.1016/j.ejpn.2017.04.004

Genes

OPA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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