Results 21 to 30 of about 7,746,465 (115)

Brown–Vialetto–Van laere syndrome: A rare, potentially treatable neurometabolic disorder!

Neurological Sciences and Neurophysiology, 2023
Swati Parida, Anand Kumar, Varun Kumar Singh, Sabyasachi Pattanayak, Aparna Khatri, Deepika Joshi   +5 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2

Stem Cell Research, 2021
Brown-Vialetto-Van Laere syndrome-2 is a rare neurological disorder characterized by sensory neuronopathy and pontobulbar palsy, caused by variations in SLC52A2 and SLC52A3 genes, encoding the riboflavin transporters.
Jiehui Ma, Kun Ni, Wei Cai, Bingying li, Qiaoqiao Qian, Dan Sun   +5 more
doaj   +1 more source

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome [PDF]

The American Journal of Human Genetics, 2010
To the Editor: Brown-Vialetto-van Laere syndrome (BVVL [MIM 211530]) is a rare, progressive, childhood neurodegenerative disease that is characterized by pontobulbar palsy, sensorineural hearing loss, and respiratory problems. BVVL is clinically heterogeneous, presenting as early as the neonatal period and as late as the third decade of life.1 BVVL has
Johnson, Janel O, Gibbs, J Raphael, Van Maldergem, Lionel, Houlden, Henry, Singleton, Andrew B   +4 more
openaire   +2 more sources

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 848-873, September 2023., 2023
Abstract Since the identification of the first disorder of mitochondrial fatty acid oxidation defects (FAOD) in 1973, more than 20 defects have been identified. Although there are some differences, most FAOD have similar clinical signs, which are mainly due to energy depletion and toxicity of accumulated metabolites.
Christine Vianey‐Saban, Nathalie Guffon, Alain Fouilhoux, Cécile Acquaviva   +3 more
wiley   +1 more source

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Journal of the Peripheral Nervous System, Volume 28, Issue 3, Page 308-316, September 2023., 2023
Abstract Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short‐term reports, but the quantum of benefit in various clinical ...
Jack R. Fennessy, Kayla M. D. Cornett, Joshua Burns, Manoj P. Menezes   +3 more
wiley   +1 more source

Lingual fasciculation: A point of call for the diagnosis of amyotrophic lateral sclerosis

Clinical Case Reports, Volume 11, Issue 6, June 2023., 2023
Photographs showing ALS symptoms: fasciculations, lingual mobility limitations, perlèches. Key Clinical Message A 60‐year‐old female patient, with no notable medical history, was referred by the internal medicine department for a dry mouth workup.
L. Galeazzi, J. Holzman, M. Mondoloni, J. Rochefort   +3 more
wiley   +1 more source

Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation

Movement Disorders Clinical Practice, Volume 10, Issue 4, Page 670-676, April 2023., 2023
ABSTRACT Background Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges for diagnosis. Cases A family with two consecutive generations affected by FA is described.
Maria João Malaquias, Jorge Oliveira, Manuela Santos, Ana Filipa Brandão, Ana Sardoeira, Jorge Sequeiros, José Barros, Joana Damásio   +7 more
wiley   +1 more source

Thirteen‐month‐old girl with hyporegenerative macrocytic anemia due to Brown–Vialetto–Van Laere syndrome 2

American Journal of Hematology, Volume 97, Issue 11, Page 1495-1496, November 2022., 2022
We diagnosed a 13‐month‐old girl with severe neurological deficits and hyporegenerative macrocytic anemiawith Brown–Vialetto–Van Laere syndrome type 2 (BVVL 2), a rare disorder of the riboflavin transporter, caused by variants in the SLC52A2 gene.
Nibras Naami, Arndt Borkhardt, Ayami Yoshimi, Lev Grinstein, Gabriele Escherich   +4 more
wiley   +1 more source

Riboflavin depletion promotes longevity and metabolic hormesis in Caenorhabditis elegans

Aging Cell, Volume 21, Issue 11, November 2022., 2022
Riboflavin depletion via knockdown of the C. elegans riboflavin transporter rft‐1 promotes longevity and metabolic hormesis. Riboflavin depletion mimics features of dietary restriction, and lifespan extension occurs through the activation of AMPK, FOXO, and the mitochondrial unfolded protein response.
Armen Yerevanian, Luke M. Murphy, Sinclair Emans, Yifei Zhou, Fasih M. Ahsan, Daniel Baker, Sainan Li, Adebanjo Adedoja, Lucydalila Cedillo, Nicole L. Stuhr, Einstein Gnanatheepam, Khoi Dao, Mohit Jain, Sean P. Curran, Irene Georgakoudi, Alexander A. Soukas   +15 more
wiley   +1 more source

Mimicking human riboflavin responsive neuromuscular disorders by silencing flad‐1 gene in C. elegans: Alteration of vitamin transport and cholinergic transmission

IUBMB Life, Volume 74, Issue 7, Page 672-683, July 2022., 2022
Abstract Riboflavin (Rf), or vitamin B2, is the precursor of FMN and FAD, redox cofactors of several dehydrogenases involved in energy metabolism, redox balance and other cell regulatory processes. FAD synthase, coded by FLAD1 gene in humans, is the last enzyme in the pathway converting Rf into FAD.
Piero Leone, Maria Tolomeo, Elisabetta Piancone, Pier Giorgio Puzzovio, Carla De Giorgi, Cesare Indiveri, Elia Di Schiavi, Maria Barile   +7 more
wiley   +1 more source