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Progressive Ponto-bulbar Palsy in Childhood.
Indian J Pediatr
August 2024
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (APC), Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Int J Mol Sci
October 2020
Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations in and , encoding riboflavin (RF) transporters (RFVT2 and RFVT3, respectively), resulting in muscle weakness, ponto-bulbar paralysis and sensorineural deafness. Based on previous findings, which document the contribution of oxidative stress in RTD pathogenesis, we tested possible beneficial effects of several antioxidants (Vitamin C, Idebenone, Coenzyme Q and EPI-743, either alone or in combination with RF) on the morphology and function of neurons derived from induced pluripotent stem cells (iPSCs) from two RTD patients.
View Article and Find Full Text PDFFazio-Londe syndrome in siblings from India with different phenotypes.
Brain Dev
August 2018
Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India. Electronic address:
Background: Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves.
Objective: To describe Fazio-Londe syndrome in sibling with different phenotype.
Methods: A 6 years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5 yr of age.
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Am J Med Genet A
February 2018
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms.
View Article and Find Full Text PDFImpaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
J Inherit Metab Dis
November 2012
Institute of Human Genetics, Technische Universität München, Trogerstrasse 22, München, 81675, Germany.
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS.
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