Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

doi:10.1093/brain/awt315

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Article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Brain : a journal of neurology - 1 Jan 2014

Foley A Reghan, Menezes Manoj P, Pandraud Amelie, Gonzalez Michael A, Al-Odaib Ahmad, Abrams Alexander J, Sugano Kumiko, Yonezawa Atsushi, Manzur Adnan Y, Burns Joshua, Hughes Imelda, McCullagh B Gary, Jungbluth Heinz, Lim Ming J, Lin Jean-Pierre, Megarbane Andre, Urtizberea J Andoni, Shah Ayaz H, Antony Jayne, Webster Richard, Broomfield Alexander, Ng Joanne, Mathew Ann A, O'Byrne James J, Forman Eva, Scoto Mariacristina, Prasad Manish, O'Brien Katherine, Olpin Simon, Oppenheim Marcus, Hargreaves Iain, Land John M, Wang Min X, Carpenter Kevin, Horvath Rita, Straub Volker, Lek Monkol, Gold Wendy, Farrell Michael O, Brandner Sebastian, Phadke Rahul, Matsubara Kazuo, McGarvey Michael L, Scherer Steven S, Baxter Peter S, King Mary D, Clayton Peter, Rahman Shamima, Reilly Mary M, Ouvrier Robert A, Christodoulou John, Züchner Stephan, Muntoni Francesco, Houlden Henry

Abstract excerpt

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing lo...

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PMID: 24253200
DOI: 10.1093/brain/awt315
PMCID: PMC3891447

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24253200-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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