Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies
Journal of Neurology, Neurosurgery & Psychiatry
Fecha de publicación: 21 Oct 2020
DOI: http://dx.doi.org/10.1136/jnnp-2020-323304
Autores: Christophe Carreau, Charline Benoit, Guido Ahle, Cécile Cauquil, Agathe Roubertie, Timothée Lenglet, Jeremy Cosgrove, Isabelle Meunier, Alice Veauville-Merllié, Cécile Acquaviva-Bourdain, Yann Nadjar.
Background: Riboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes, have recently been related to Brown-Vialetto-Van Laere (BVVL) syndrome, a hereditary paediatric condition associating motor neuropathy (MN) and deafness. BVVL/RTD has rarely been reported in adult patients, but is probably underdiagnosed due to poor knowledge and lack of awareness of this form of disease among neurologists. In this study, we aimed to investigate the phenotype and prognosis of RTD patients with late-onset MN.
