Remarkable motor recovery after riboflavin therapy in adult-onset Brown–Vialetto–Van Laere syndrome

James A. Bashford*, Fahmida A. Chowdhury, Chris E. Shaw

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)
164 Downloads (Pure)

Abstract

The clinical diagnosis of Brown—Vialetto—Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition. Early diagnosis and empirical riboflavin therapy can lead to major motor recovery in this condition, that can be sustained with long-term maintenance therapy.

Original languageEnglish
Pages (from-to)53-56
Number of pages4
JournalPRACTICAL NEUROLOGY
Volume17
Issue number1
Early online date24 Oct 2016
DOIs
Publication statusPublished - 1 Feb 2017

Fingerprint

Dive into the research topics of 'Remarkable motor recovery after riboflavin therapy in adult-onset Brown–Vialetto–Van Laere syndrome'. Together they form a unique fingerprint.

Cite this