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Article

Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.

European journal of neurology - 1 Sept 2024

Giannoccaro Maria Pia, Morelli Luana, Ricciardiello Fortuna, Donadio Vincenzo, Bartiromo Fiorina, Tonon Caterina, Carbonelli Michele, Amore Giulia, Carelli Valerio, Liguori Rocco, La Morgia Chiara

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis-like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Hereditary, Leber

Source

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Identifiers

PMID: 38757769
DOI: 10.1111/ene.16344
PMCID: PMC11295152

Genes

DNAJC30

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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