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

TY - JOUR

T1 - Remarkable motor recovery after riboflavin therapy in adult-onset Brown–Vialetto–Van Laere syndrome

AU - Bashford, James A.

AU - Chowdhury, Fahmida A.

AU - Shaw, Chris E.

PY - 2017/2/1

Y1 - 2017/2/1

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=85010433128&partnerID=8YFLogxK

U2 - 10.1136/practneurol-2016-001488

DO - 10.1136/practneurol-2016-001488

M3 - Article

AN - SCOPUS:85010433128

SN - 1474-7758

VL - 17

SP - 53

EP - 56

JO - PRACTICAL NEUROLOGY

JF - PRACTICAL NEUROLOGY

IS - 1

ER -