RT Journal Article
SR Electronic
T1 Remarkable motor recovery after riboflavin therapy in adult-onset Brown—Vialetto—Van Laere syndrome
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 53
OP 56
DO 10.1136/practneurol-2016-001488
VO 17
IS 1
A1 Bashford, James A
A1 Chowdhury, Fahmida A
A1 Shaw, Chris E
YR 2017
UL http://pn.bmj.com/content/17/1/53.abstract
AB 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.