Brown-Vialetto-Van Laere syndrome

A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of CRANIAL NERVE palsies. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, resulting in a phenotype similar to AMYOTROPHIC LATERAL SCLEROSIS. Onset is typically in the second decade, but may be earlier or later. Hearing loss tends to precede the onset of neurologic signs. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable. Mutations in the SLC52A3 gene have been identified. OMIM: 211530

Also Known As:

Networked: 42 relevant articles (5 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Progressive Bulbar Palsy (Fazio Londe Syndrome)
2.	Refsum Disease (Refsum's Disease)
3.	Hereditary Sensory and Autonomic Neuropathies (HSAN)
4.	Deafness (Deaf Mutism)
5.	Neurodegenerative Diseases (Neurodegenerative Disease)

Experts

1.	Houlden, Henry: 5 articles (11/2017 - 09/2012)
2.	Pandraud, Amelie: 4 articles (11/2017 - 09/2012)
3.	Horvath, Rita: 3 articles (01/2021 - 01/2014)
4.	Ashokkumar, Balasubramaniem: 3 articles (11/2017 - 11/2016)
5.	Muntoni, Francesco: 3 articles (11/2017 - 09/2012)
6.	Reilly, Mary M: 3 articles (11/2017 - 09/2012)
7.	Ceylaner, Serdar: 2 articles (01/2021 - 02/2016)
8.	Hargreaves, Iain: 2 articles (11/2017 - 01/2014)
9.	Manole, Andreea: 2 articles (11/2017 - 05/2017)
10.	Singleton, Andrew B: 2 articles (11/2017 - 09/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brown-Vialetto-Van Laere syndrome:

1.	Riboflavin (Vitamin B2)FDA LinkGeneric 01/01/2017 - "Similar to other cases of Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early riboflavin supplementation with significant but not complete neurologic recovery." 10/03/2023 - "A karyotype study (whole-exome sequencing) revealed alterations within SLC52A2, leading to the diagnosis of Brown-Vialetto-Van Laere syndrome and initiation of high-dose riboflavin treatment. " 01/01/2023 - "The adsorption and distribution of riboflavin is mediated by transmembrane transporters of the SLC52 family, namely RFVT1-3, whose mutations are mainly associated with two diseases, MADD and the Brown-Vialetto-Van Laere syndrome. " 11/01/2022 - "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. " 11/01/2021 - "We suggest that comprehensive testing of vestibular function should be conducted in Brown-Vialetto-Van Laere syndrome, in addition to serial behavioural audiometry as part of the systematic examination of the effects of riboflavin."
2.	Serine (L-Serine)FDA Link 01/01/2021 - "Smaller studies showed the efficacy of L-serine for SPTLC1-related hereditary sensory neuropathy, riboflavin for Brown-Vialetto-Van Laere syndrome (SLC52A2/3) and phytanic acid-poor diet in Refsum disease (PHYH). "
3.	Phytanic AcidIBA 01/01/2021 - "Smaller studies showed the efficacy of L-serine for SPTLC1-related hereditary sensory neuropathy, riboflavin for Brown-Vialetto-Van Laere syndrome (SLC52A2/3) and phytanic acid-poor diet in Refsum disease (PHYH). "
4.	Therapeutic UsesIBA 02/01/2016 - "Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin."
5.	Thiamine (Aneurin)FDA Link 01/01/2022 - "Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. "
6.	Levodopa (L Dopa)FDA LinkGeneric 01/01/2022 - "Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. "
7.	IronIBA 01/01/2019 - "In this light, we screened SLC52A3, which is the cause of Brown-Vialetto-Van Laere syndrome, and C19orf12, which is the cause of neurodegeneration with brain iron accumulation in 60 Iranian amyotrophic lateral sclerosis (ALS) patients without mutations in the 2 most important ALS-causing genes, SOD1 and C9orf72. "
8.	G(M1) GangliosideIBA 01/01/1998 - "[Brown-Vialetto-Van Laere syndrome: a case with anti-ganglioside GM1 antibodies and literature review]."
9.	EstersIBA 11/01/2017 - "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."
10.	DNA (Deoxyribonucleic Acid)IBA 12/01/2012 - "Only two UBQLN1 coding variants were detected in the familial and sporadic ALS DNA set; one, the missense mutation p.E54D, was identified in a single patient with atypical motor neuron disease consistent with Brown-Vialetto-Van Laere syndrome (BVVLS), for whom c20orf54 mutations had been excluded. "

Therapies and Procedures

1.	Cochlear Implants (Cochlear Implant) 03/01/2022 - "Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient." 10/03/2023 - "In this case, the diagnosis of Brown-Vialetto-Van Laere syndrome resulted in timely correction of the genetic riboflavin (vitamin B2) deficiency and improved hearing following the use of cochlear implants." 10/03/2023 - "This report describes a 4-year-old Polish girl with progressive hearing loss and delayed speech development diagnosed with Brown-Vialetto-Van Laere syndrome who was treated with riboflavin (vitamin B2) and cochlear implants. " 10/03/2023 - "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."
2.	Therapeutics 11/13/2018 - "Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy." 01/01/2017 - "Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome." 10/01/2015 - "Following a diagnosis by WES of Brown-Vialetto-Van Laere Syndrome 2 (BVVLS2), high-dose riboflavin therapy was instituted in a 20-mo-old child. " 01/01/2017 - "The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. " 01/01/2022 - "Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. "
3.	Cochlear Implantation 03/01/2011 - "To report outcomes for the first known cochlear implantation procedures in two patients with Brown-Vialetto-Van-Laere syndrome. " 03/01/2011 - "Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome." 01/01/2019 - "Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome."
4.	Ketogenic Diet 01/01/2022 - "Several variants were detected that indicated possible personalized therapies: SLC2A1 led to dystonia or epilepsy, which can be treated with a ketogenic diet; SLC6A3 led to infantile parkinsonism-dystonia 1, which can be treated with levodopa; SLC6A5 led to hyperekplexia 3, for which unnecessary treatment with antiepileptic drugs should be avoided; SLC6A8 led to creatine deficiency syndrome type 1, which can be treated with creatine monohydrate; SLC16A1 led to monocarboxylate transporter 1 deficiency, which causes seizures that should not be treated with a ketogenic diet; SLC19A3 led to biotin-thiamine-responsive basal ganglia disease, which can be treated with biotin and thiamine; and SLC52A3 led to Brown-Vialetto-Van-Laere syndrome 1, which can be treated with riboflavin. "
5.	Mechanical Ventilators (Ventilator) 11/01/2017 - "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. "