Results 61 to 70 of about 520 (140)

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)

, 2021
Objective The purpose of this paper is to describe a child with auditory neuropathy spectrum disorder (ANSD) associated with Brown-Vialetto-Van Laere (BVVL) syndrome, which is a rare, inherited, neurodegenerative disorder that is caused by defects in ...
Yapici, Zuhal, AYANOĞLU AKSOY, Elif, Gedik Soyuyuce, Ozlem   +2 more
core   +1 more source

Fazio-Londe Syndrome and Patient-centered Nursing Care: A Case Report

Journal of Client-centered Nursing Care, 2020
Introduction: Fazio-Londe disease is a genetic rare disorder manifesting by acute respiratory distress. This article is a case report of Fazio-Londe syndrome, its comparison with other case reports in the literature, and its patient-centered nursing care.
Mohammad Abdi, Maryam Jolfaei, Maryam Ghasemi, Mohammad Reza Dinmohammadi, Hojjat Torkmandi, Elmira Khademi   +5 more
doaj  

Cochlear implantation in Brown–Vialetto–Van- Laere syndrome

, 2011
OBJECTIVE: To report outcomes for the first known cochlear implantation procedures in two patients with Brown-Vialetto-Van-Laere syndrome. PATIENTS: Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with ...
J G Toner (16234322), B Fruhstorfer (16234316), D R Watson (16234211), A R Sinnathuray (16234313), J R Olarte (16234319)   +4 more
core  

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease : two novel mutations

, 2013
Background: Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive pontobulbar palsy and sensorineural deafness. Causative mutations in genes encoding human riboflavin transporter 2 (hRFT2) and 3 (hRFT3) have been ...
A. D'Amico, D. Ronchi, M. Ciccolella, E. Bertini, G.P. Comi, M. Catteruccia, S. Petrini, S. Corti, A. Bordoni, R. Carrozzo, G. Tozzi, T. Rizza, C. Rizzo, M. Nizzardo   +13 more
core   +1 more source

Brown−Vialetto−Van Laere and Fazio−Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance [PDF]

, 2021
BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS) and Fazio-Londe Disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness, and respiratory insufficiency.
Efthymiou, S, Houlden, H, Udhayabanu, T, Ashokkumar, B, Benakappa, N, Gowda, VK, O'Callaghan, B, Varalakshmi, P, Gayathri, S   +8 more
core  

A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome. [PDF]

Am J Case Rep, 2023
Piecuch AK, Skarżyński PH, Skarżyński H.   +2 more
europepmc   +1 more source

Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome

Neurosciences, 2012
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset.
Samira, Yadegari, Keyvan, Razmjoo, Shahriar, Nafissi   +2 more
openaire   +2 more sources

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy [PDF]

, 2017
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence.
Reilly, M M, Toro, Camilo, Pope, Simon, Revesz T, Horvath, Rita, Revesz, Tamas, Pandraud, Amelie, Alejandro Horga, Henry Houlden, Andreea Manole, Vincenzo Salpietro, Kullmann, Dimitri M., Camilo Toro, Singleton, Andrew B., Singleton, A B, Horvath R., Hargreaves I, Chinnery PF, Jaunmuktane Z., Hargreaves, Iain, Li A., Ludtmann, MHR, Pope S., Muntoni F., Abramov, A Y, Kullmann DM, Jacques, Thomas S., Simon Heales, Jaunmuktane, Zane, Jacques T. S., Salpietro V., Toro C., Reilly M. M., Pope, S, Dimitri M Kullmann, Horga A., Pandraud A, Scalco, R S, Salpietro, Vincenzo, Zane Jaunmuktane, Jepson J. E. C., Revesz, T, Hanna MG, Balasubramaniem Ashokkumar, Pope S, Salpietro, V, Chinnery, P F, Hanna, F G, Toro, C, Rita Horvath, Abramov AY, Li A, Reilly, MM, Pandraud A., Bello O. D., Horga, A, Houlden, H, Ashokkumar B, Hanna, MG, Jacques TS, Simon Pope, Abramov, AY, Lourenco CM, Andrey Y Abramov, Hargreaves, IP, Renata S Scalco, Chinnery, Patrick F., Houlden, Henry, Marthe H R Ludtmann, Jaunmuktane Z, Revesz T., Jacques, TS, Jepson JEC, Bello, Oscar Daniel, Pandraud, A, Jepson, J E C, Scalco R. S., Mary M Reilly, Ashokkumar, Balasubramaniem, Manole, A, Iain Hargreaves, Ashokkumar, B, Patrick F Chinnery, Kullmann, DM, Heales S., Ashokkumar B., Lourenço, C M, Horga A, Singleton A. B., Heales, S, Scalco, Renata S., Muntoni, Francesco, Lourenço, Charles M., Tamas Revesz, Ludtmann, Marthe H. R., Toro C, Houlden H., Chinnery P. F., Amelie Pandraud, James E C Jepson, Bello OD, Ludtmann MHR, Houlden H, Ludtmann M. H. R., Scalco, RS, Jepson, JEC, Muntoni, F, Andrew B Singleton, Kullmann D. M., Lourenco C. M., Hanna, Michael G., Oscar D Bello, Manole A, Abramov A. Y., Heales S, Reilly MM, Francesco Muntoni, Reilly, Mary M., Lourenço, CM, Michael G Hanna, Singleton, AB, Charles M Lourenço, Ludtmann, M H R, Horvath, R, Heales, Simon, Scalco RS, Thomas S Jacques, Hargreaves, I, Li, A, Li, Abi, Jepson, James E. C., Chinnery, PF, Horga, Alejandro, Kullman, N D M, Manole A., Singleton AB, Salpietro V, Abramov, Andrey Y., Muntoni F, Bello, OD, Horvath R, Abi Li, Hanna M. G., Jaunmuktane, Z, Hargreaves I., Manole, Andreea   +145 more
core   +1 more source

Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

, 2011
Brown-Vialetto-Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter.
Blair, E, SATHIYA JAYAPAL, Hull, J, Hasan, N, NADEEM HASAN, EDWARD BLAIR, Hull, Jeremy, TONY MCSHANE, McShane, T, Ali, T, Huma, Z, SANDEEP JAYAWANT, JEREMY HULL, Anand, G, GEETHA ANAND, ZILLA HUMA, Jayapal, S, Jayawant, S, TARIQ ALI   +18 more
core   +1 more source

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease

, 2005
We report four siblings showing features of a pontobulbar palsy, a mixed spinal and upper motor neuropathy and variable deafness. The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive ...
Dipti, Subrahmanian, Crow, Yanick J., Livingston, John H., Miller, Mike, Childs, Anne Marie, Williams, Chris, Aggarwal, A. K.   +6 more
core   +1 more source