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Article

Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

European journal of neurology - 1 Mar 2021

Gayathri Santhalingam, Gowda Vykuntaraju K, Udhayabanu Tamilarasan, O'Callaghan Benjamin, Efthymiou Stephanie, Varalakshmi Perumal, Benakappa Naveen, Houlden Henry, Ashokkumar Balasubramaniem

Abstract excerpt

BACKGROUND: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness and respiratory insufficiency. Mutations in SLC52A2 (hRFVT-2) or SLC52A3 (hRFVT-3) genes can be responsible for these disorders with an autosomal recessive pattern of inheritance. The aim of this study was to screen for mutations in SLC52A2 and...

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PMID: 33325104
DOI: 10.1111/ene.14682

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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