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[PMID]:29053833
[Au] Autor:Manole A; Jaunmuktane Z; Hargreaves I; Ludtmann MHR; Salpietro V; Bello OD; Pope S; Pandraud A; Horga A; Scalco RS; Li A; Ashokkumar B; Lourenço CM; Heales S; Horvath R; Chinnery PF; Toro C; Singleton AB; Jacques TS; Abramov AY; Muntoni F; Hanna MG; Reilly MM; Revesz T; Kullmann DM; Jepson JEC; Houlden H
[Ad] Endereço:Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
[Ti] Título:Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
[So] Source:Brain;140(11):2820-2837, 2017 11 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo: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. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel. Brain and spinal cord neuropathological examination of two cases with SLC52A3 mutations showed classical symmetrical brainstem lesions resembling pathology seen in mitochondrial disease, including severe neuronal loss in the lower cranial nerve nuclei, anterior horns and corresponding nerves, atrophy of the spinothalamic and spinocerebellar tracts and posterior column-medial lemniscus pathways. Mitochondrial dysfunction has previously been implicated in an array of neurodegenerative disorders. Since riboflavin metabolites are critical components of the mitochondrial electron transport chain, we hypothesized that reduced riboflavin transport would result in impaired mitochondrial activity, and confirmed this using in vitro and in vivo models. Electron transport chain complex I and complex II activity were decreased in SLC52A2 patient fibroblasts, while global knockdown of the single Drosophila melanogaster riboflavin transporter homologue revealed reduced levels of riboflavin, downstream metabolites, and electron transport chain complex I activity. This in turn led to abnormal mitochondrial membrane potential, respiratory chain activity and morphology. Riboflavin transporter knockdown in Drosophila also resulted in severely impaired locomotor activity and reduced lifespan, mirroring patient pathology, and these phenotypes could be partially rescued using a novel esterified derivative of riboflavin. Our findings expand the genetic, clinical and neuropathological features of Brown-Vialetto-Van Laere syndrome, implicate mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects, and validate riboflavin esters as a potential therapeutic strategy.
[Mh] Termos MeSH primário: Encéfalo/patologia
Paralisia Bulbar Progressiva/genética
Perda Auditiva Neurossensorial/genética
Proteínas de Membrana Transportadoras/genética
Receptores Acoplados a Proteínas-G/genética
Medula Espinal/patologia
[Mh] Termos MeSH secundário: Adolescente
Animais
Atrofia
Encéfalo/ultraestrutura
Paralisia Bulbar Progressiva/metabolismo
Paralisia Bulbar Progressiva/patologia
Criança
Pré-Escolar
Citrato (si)-Sintase/metabolismo
Drosophila melanogaster
Complexo I de Transporte de Elétrons/metabolismo
Complexo II de Transporte de Elétrons/metabolismo
Complexo III da Cadeia de Transporte de Elétrons/metabolismo
Feminino
Fibroblastos/metabolismo
Técnicas de Silenciamento de Genes
Perda Auditiva Neurossensorial/metabolismo
Perda Auditiva Neurossensorial/patologia
Seres Humanos
Técnicas In Vitro
Lactente
Locomoção/genética
Longevidade/genética
Masculino
Microscopia Eletrônica
Vias Neurais
Riboflavina
Tratos Espinocerebelares/patologia
Tratos Espinotalâmicos/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (Receptors, G-Protein-Coupled); 0 (SLC52A2 protein, human); 0 (SLC52A3 protein, human); EC 1.10.2.2 (Electron Transport Complex III); EC 1.3.5.1 (Electron Transport Complex II); EC 1.6.5.3 (Electron Transport Complex I); EC 2.3.3.1 (Citrate (si)-Synthase); TLM2976OFR (Riboflavin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx231


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[PMID]:28116953
[Au] Autor:Allison T; Roncero I; Forsyth R; Coffman K; Pichon JL
[Ad] Endereço:1 Division of Neurology, Children's Mercy Hospital, Kansas City, MO, USA.
[Ti] Título:Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
[So] Source:J Child Neurol;32(6):528-532, 2017 May.
[Is] ISSN:1708-8283
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed mutations in one of the riboflavin transporters, confirming Brown-Vialetto-Van Laere syndrome. It is likely that Brown-Vialetto-Van Laere syndrome is more common than previously reported, and because it mimics neuroimmune disorders, it may be misdiagnosed as such. It shares many features with diseases such as chronic inflammatory demyelinating neuropathy, may present with positive cerebrospinal fluid antibody titers, and may transiently respond to intravenous immunoglobulin. We review the literature on Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome, 2 riboflavin transporter disorders, looking for clinical presentations that may lead to confusion with neuroimmune disorders. We emphasize the importance of correctly diagnosing the disease, as its treatment is relatively benign and will stop progression of the disease and may even reverse it.
[Mh] Termos MeSH primário: Doenças Autoimunes do Sistema Nervoso/fisiopatologia
Paralisia Bulbar Progressiva/diagnóstico
Perda Auditiva Neurossensorial/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Paralisia Bulbar Progressiva/genética
Pré-Escolar
Progressão da Doença
Feminino
Perda Auditiva Neurossensorial/genética
Seres Humanos
Proteínas de Membrana Transportadoras/genética
Mutação/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (SLC52A3 protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170125
[St] Status:MEDLINE
[do] DOI:10.1177/0883073816689517


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[PMID]:28039894
[Au] Autor:Caress JB; Johnson JO; Abramzon YA; Hawkins GA; Gibbs JR; Sullivan EA; Chahal CS; Traynor BJ
[Ad] Endereço:Department of Neurology, Wake Forest School of Medicine, Medical Center Blvd, Winston-Salem, North Carolina, 27157, USA.
[Ti] Título:Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
[So] Source:Muscle Nerve;56(5):1001-1005, 2017 Nov.
[Is] ISSN:1097-4598
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimics motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of ALS. METHODS: We studied 18 members of a family in which some had bulbar motor neuropathy, and we performed exome sequencing. RESULTS: Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV. CONCLUSIONS: This American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. Hereditary amyloidosis type IV presents with bulbar motor neuropathy and not with peripheral neuropathy as occurs with common forms of amyloidosis. This report demonstrates the power of exome sequencing to determine the cause of rare hereditary diseases with incomplete or atypical phenotypes. Muscle Nerve 56: 1001-1005, 2017.
[Mh] Termos MeSH primário: Amiloidose Familiar/genética
Paralisia Bulbar Progressiva/genética
Saúde da Família
Gelsolina/genética
Mutação/genética
[Mh] Termos MeSH secundário: Idoso de 80 Anos ou mais
Amiloidose Familiar/complicações
Paralisia Bulbar Progressiva/complicações
Análise Mutacional de DNA
Feminino
Seres Humanos
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Gelsolin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170101
[St] Status:MEDLINE
[do] DOI:10.1002/mus.25550


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[PMID]:27737868
[Au] Autor:Panayi C; Antoun N; Sandford R
[Ad] Endereço:Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK.
[Ti] Título:Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease.
[So] Source:BMJ Case Rep;2016, 2016 Oct 13.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A 44-year-old woman with a history of von Hippel-Lindau (VHL) disease, a rare inherited neoplasia syndrome, presented acutely to hospital with a productive cough, symptoms of respiratory tract infection and odynophagia (painful swallowing). A chest X-ray confirmed right-sided pneumonia. Investigation of the persistent odynophagia using barium swallow revealed aspiration of the contrast into the lungs and suggested a neurological cause for her chest infection. Clinical assessment and speech and language therapy confirmed a pseudobulbar palsy. Subsequent neuroimaging identified a cystic haemangioblastoma, located at the cervicomedullary junction of the brainstem, as the cause of the pseudobulbar palsy. Urgent neurosurgical excision produced symptomatic relief and with continuing medical therapy, and clinical resolution of her pneumonia. In patients with VHL disease and other inherited cancer syndromes, a high index of suspicion should be maintained for new tumours presenting with common medical symptoms and signs.
[Mh] Termos MeSH primário: Neoplasias do Tronco Encefálico/complicações
Paralisia Bulbar Progressiva/etiologia
Hemangioblastoma/complicações
Pneumonia Aspirativa/etiologia
Doença de von Hippel-Lindau/complicações
[Mh] Termos MeSH secundário: Adulto
Neoplasias do Tronco Encefálico/diagnóstico
Transtornos de Deglutição/etiologia
Feminino
Hemangioblastoma/diagnóstico
Seres Humanos
Imagem por Ressonância Magnética
Pneumonia Aspirativa/diagnóstico
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170227
[Lr] Data última revisão:
170227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE


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[PMID]:27702554
[Au] Autor:Udhayabanu T; Subramanian VS; Teafatiller T; Gowda VK; Raghavan VS; Varalakshmi P; Said HM; Ashokkumar B
[Ad] Endereço:School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India.
[Ti] Título:SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.
[So] Source:Clin Chim Acta;462:210-214, 2016 Nov 01.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. METHODS: Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations viz., c.421C>A [p.P141T] in SLC52A2 and c.62A>G [p.N21S] in SLC52A3. RESULTS: Functional characterization based on H-riboflavin uptake assay and live-cell confocal imaging revealed that the effect of mutation c.421C>A [p.P141T] identified in SLC52A2 had a slight reduction in riboflavin uptake; on the other hand, the c.62A>G [p.N21S] identified in SLC52A3 showed a drastic reduction in riboflavin uptake, which appeared to be due to impaired trafficking and membrane targeting of the hRFVT-3 protein. CONCLUSIONS: This is the first report presenting mutations in both riboflavin transporters hRFVT-2 and hRFVT-3 in the same BVVLS patient. Also, c.62A>G [p.N21S] in SLC52A3 appears to contribute more to the disease phenotype in this patient than c.421C>A [p.P141T] in SLC52A2.
[Mh] Termos MeSH primário: Paralisia Bulbar Progressiva/genética
Perda Auditiva Neurossensorial/genética
Proteínas de Membrana Transportadoras/genética
Mutação
Receptores Acoplados a Proteínas-G/genética
Riboflavina/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Paralisia Bulbar Progressiva/diagnóstico
Células Cultivadas
Perda Auditiva Neurossensorial/diagnóstico
Seres Humanos
Índia
Riboflavina/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (Receptors, G-Protein-Coupled); 0 (SLC52A2 protein, human); 0 (SLC52A3 protein, human); TLM2976OFR (Riboflavin)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161006
[St] Status:MEDLINE


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[PMID]:27352503
[Au] Autor:Kang L; Zheng S
[Ti] Título:[Effective acupoints for bulbar paralysis by professor GAO Weibin].
[So] Source:Zhongguo Zhen Jiu;36(4):402-4, 2016 Apr.
[Is] ISSN:0255-2930
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:Professor GAO Weibin academically advocates, based on basic theory of TCM and theories of different schools, modern science technology should be used for the methods and principles of acupuncture and Chinese medicine for neuropathy, so as to explore and summarize the rules, characteristics and advantages of TCM for nervous system disease, especially bulbar paralysis. During the treatment of bulbar paralysis, professor GAO creatively proposes the effective acupuncture points such as Gongxue, Tunyan-1, Tunyan-2, Fayin, Tiyan and Zhifanliu from the aspects of neuroanatomy, and analyzes their anatomical structure and action mechanism.
[Mh] Termos MeSH primário: Pontos de Acupuntura
Terapia por Acupuntura
Paralisia Bulbar Progressiva/terapia
[Mh] Termos MeSH secundário: Terapia por Acupuntura/história
Paralisia Bulbar Progressiva/história
China
História do Século XX
História do Século XXI
Seres Humanos
[Pt] Tipo de publicação:BIOGRAPHY; ENGLISH ABSTRACT; HISTORICAL ARTICLE; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Ps] Nome de pessoa como assunto:GAO W
[Em] Mês de entrada:1607
[Cu] Atualização por classe:160629
[Lr] Data última revisão:
160629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160630
[St] Status:MEDLINE


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[PMID]:27348906
[Au] Autor:Liu Y; Wang H
[Ti] Título:[Nape acupuncture combined with pharynx acupuncture for 32 cases of true bulbar paralysis after cerebral infarction].
[So] Source:Zhongguo Zhen Jiu;36(2):129-30, 2016 Feb.
[Is] ISSN:0255-2930
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Pontos de Acupuntura
Terapia por Acupuntura
Paralisia Bulbar Progressiva/terapia
Infarto Cerebral/complicações
[Mh] Termos MeSH secundário: Idoso
Paralisia Bulbar Progressiva/etiologia
Paralisia Bulbar Progressiva/fisiopatologia
Feminino
Seres Humanos
Masculino
Meia-Idade
Faringe/fisiopatologia
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1607
[Cu] Atualização por classe:160628
[Lr] Data última revisão:
160628
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160629
[St] Status:MEDLINE


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[PMID]:27084214
[Au] Autor:Kaji S; Kawarai T; Miyamoto R; Nodera H; Pedace L; Orlacchio A; Izumi Y; Takahashi R; Kaji R
[Ad] Endereço:Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan; Department of Neurology, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: seiji-kaji@hotmail.co.jp.
[Ti] Título:Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.
[So] Source:J Neurol Sci;364:45-9, 2016 May 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS.
[Mh] Termos MeSH primário: Esclerose Amiotrófica Lateral/fisiopatologia
Paralisia Bulbar Progressiva/etiologia
Saúde da Família
Fasciculação/etiologia
Paraplegia Espástica Hereditária/complicações
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Análise Mutacional de DNA
Eletromiografia
Feminino
Seres Humanos
Japão
Cinesina/genética
Masculino
Meia-Idade
Mutação de Sentido Incorreto/genética
Condução Nervosa/genética
Paraplegia Espástica Hereditária/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KIF5A protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170107
[Lr] Data última revisão:
170107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160417
[St] Status:MEDLINE


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[PMID]:26976849
[Au] Autor:Intoh A; Suzuki N; Koszka K; Eggan K
[Ad] Endereço:Department of Stem Cell and Regenerative Biology, The Harvard Stem Cell Institute, Harvard University, Sherman Fairchild Building, 7 Divinity Avenue, Cambridge, MA 02138, USA and.
[Ti] Título:SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
[So] Source:Hum Mol Genet;25(9):1814-23, 2016 May 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Riboflavin, also known as vitamin B2, is essential for cellular reduction-oxidation reactions, but is not readily synthesized by mammalian cells. It has been proposed that riboflavin absorption occurs through solute carrier family 52 members (SLC52) A1, A2 and A3. These transporters are also candidate genes for the childhood onset-neural degenerative syndrome Brown-Vialetto-Van Laere (BVVL). Although riboflavin is an essential nutrient, why mutations in its transporters result in a neural cell-specific disorder remains unclear. Here, we provide evidence that Slc52a3 is the mouse ortholog of SLC52A3 and show that Slc52a3 deficiency results in early embryonic lethality. Loss of mutant embryos was associated with both defects in placental formation and increased rates of apoptosis in embryonic cells. In contrast, Slc52a3 -/- embryonic stem cell lines could be readily established and differentiated into motor neurons, suggesting that this transporter is dispensable for neural differentiation and short-term maintenance. Consistent with this finding, examination of Slc52a3 gene products in adult tissues revealed expression in the testis and intestine but little or none in the brain and spinal cord. Our results suggest that BVVL patients with SCL52A3 mutations may be good candidates for riboflavin replacement therapy and suggests that either the mutations these individuals carry are hypomorphic, or that in these cases alternative transporters act during human embryogenesis to allow full-term development.
[Mh] Termos MeSH primário: Paralisia Bulbar Progressiva/genética
Paralisia Bulbar Progressiva/patologia
Diferenciação Celular
Embrião de Mamíferos/citologia
Perda Auditiva Neurossensorial/genética
Perda Auditiva Neurossensorial/patologia
Proteínas de Membrana Transportadoras/metabolismo
Neurônios Motores/citologia
Mutação/genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Embrião de Mamíferos/metabolismo
Feminino
Seres Humanos
Masculino
Proteínas de Membrana Transportadoras/genética
Camundongos
Camundongos Knockout
Neurônios Motores/metabolismo
Neurogênese
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (SLC52A3 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160316
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw053


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[PMID]:26918385
[Au] Autor:Menezes MP; O'Brien K; Hill M; Webster R; Antony J; Ouvrier R; Birman C; Gardner-Berry K
[Ad] Endereço:Institute for Neuroscience and Muscle Research and Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead, Sydney, NSW, Australia.
[Ti] Título:Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
[So] Source:Dev Med Child Neurol;58(8):848-54, 2016 Aug.
[Is] ISSN:1469-8749
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. METHOD: We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual. RESULTS: Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent-onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual. INTERPRETATION: Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation.
[Mh] Termos MeSH primário: Paralisia Bulbar Progressiva/complicações
Paralisia Bulbar Progressiva/etiologia
Perda Auditiva Central/complicações
Perda Auditiva Neurossensorial/complicações
Perda Auditiva Neurossensorial/etiologia
Proteínas de Membrana Transportadoras/deficiência
Deficiência de Riboflavina/complicações
[Mh] Termos MeSH secundário: Estimulação Acústica
Idade de Início
Audiometria
Paralisia Bulbar Progressiva/genética
Criança
Pré-Escolar
Implante Coclear/métodos
Eletroencefalografia
Potenciais Evocados Auditivos do Tronco Encefálico/efeitos dos fármacos
Potenciais Evocados Auditivos do Tronco Encefálico/genética
Feminino
Seguimentos
Perda Auditiva Central/tratamento farmacológico
Perda Auditiva Central/cirurgia
Perda Auditiva Neurossensorial/genética
Seres Humanos
Masculino
Proteínas de Membrana Transportadoras/genética
Mutação/genética
Emissões Otoacústicas Espontâneas/efeitos dos fármacos
Emissões Otoacústicas Espontâneas/genética
Riboflavina/uso terapêutico
Deficiência de Riboflavina/tratamento farmacológico
Percepção da Fala/efeitos dos fármacos
Percepção da Fala/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (SLC52A3 protein, human); TLM2976OFR (Riboflavin)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170428
[Lr] Data última revisão:
170428
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160227
[St] Status:MEDLINE
[do] DOI:10.1111/dmcn.13084



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