RARE DISEASE
Riboflavin transporter deficiency
Riboflavin transporter deficiency
Riboflavin transporter deficiency
Synonyms: Brown-Vialetto-van Laere syndrome
Synonyms: Brown-Vialetto-van Laere syndrome
Synonyms: Brown-Vialetto-van Laere syndrome
Drug discovery
0
drugs
With orphan designations
Overview
Riboflavin transporter deficiency (RTD) is a rare autosomal recessive disorder caused by biallelic mutations in SLC52A2 or SLC52A3, impairing cellular riboflavin uptake. This motor neuron disease manifests with sensorineural hearing loss, cranial neuropathies, muscle weakness, sensory ataxia, and respiratory insufficiency due to diaphragm paralysis. Untreated cases progress to irreversible neurodegeneration and death. Diagnosis relies on genetic testing, as biochemical markers can be normal. Early high-dose riboflavin supplementation (10–50 mg/kg/day) halts progression and reverses symptoms, making prompt treatment critical [1][3][9].
Burden
Mortality: Respiratory failure is the primary cause of death in untreated cases; no fatalities reported in riboflavin-treated patients [1][9]
Morbidity: 71% show symptom improvement and 29% stabilize with treatment, but irreversible neurological deficits persist in late-diagnosed cases [9][14]
Resource impact: Requires lifelong riboflavin, multidisciplinary care, and frequent monitoring (e.g., respiratory function, vision/hearing assessments) [3][5]
Therapies
Immediate riboflavin replacement: 20–50 mg/kg/day divided into 3–4 doses (≥300 mg/day in adults) [1][3][14]
Supportive care: Respiratory support (tracheostomy/ventilation), gastrostomy for dysphagia, cochlear implants for hearing loss, and physical therapy [1][6][10]
Experimental approaches: Gene therapy (AAV9-SLC52A2) shows neurite restoration in preclinical models [7][11]
Categories: rare developmental anomalies during embryogenesis, rare genetic diseases, rare neurological diseases, rare ophthalmic disorders, rare otorhinolaryngological diseases
Research Papers
138 drug discovery papers about Riboflavin transporter deficiency. Recent publications:
138 drug discovery papers about Riboflavin transporter deficiency. Recent publications:
categories:
Small molecules
small molecules
2026-08-05 | Riboflavin transporter deficiency associated with a homozygous nonsense slc52a3 variant: first genotypeÓ?phenotype correlation and literature review
Objective: The objective of the study was to describe a rare case of riboflavin (RF) transporter deficiency (RTD) caused by a homozygous nonsense variant in SLC52A3 not previously associated with a detailed clinical phenotype, and to review the clinical features, genetic findings, and therapeutic response reported in the literature.Methods: We report the clinical, neurophysiological, and genetic findings of an infant diagnosed with RTD.Molecular analysis was performed using next-generation sequencing, with variant confirmation by Sanger sequencing.Variant interpretation followed the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines.In addition, a narrative review of the literature was conducted, focusing on previously reported cases of SLC52A2 and SLC52A3 mutations.Results: The patient presented with progressive neuromuscular involvement, including hypotonia, dysphagia, and respiratory failure requiring ventilatory support.Genetic testing identified a homozygous nonsense variant in SLC52A3, predicted to result in loss of protein function.This variant has been previously deposited in ClinVar by the testing laboratory but has not been reported in published clinical cases to date.Despite early initiation of high-dose RF supplementation, no significant clinical improvement was observed.Review of the literature suggests that missense variants are more frequently associated with partial therapeutic response, whereas severe loss-of-function variants, such as nonsense mutations, are associated with poorer outcomes.Conclusions: RTD should be considered in infants with progressive neuromuscular symptoms and respiratory compromise.Although early RF supplementation remains essential, this case highlights that therapeutic response may be limited in patients harboring severe loss-of-function variants, underscoring the importance of genotype-phenotype correlations for prognosis and clinical counseling.
2026-04-30 | SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.
SLC52A3-related Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder characterized by progressive motor and sensory impairment, with high mortality rate if left untreated. We hereby report the largest cohort with SLC52A3-related BVVL from the Arabian Peninsula. A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region were retrospectively reviewed. Most patients were clinically ascertained (13/23), while 10 patients were diagnosed pre-symptomatically. 20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del. Facial diplegia was the commonest clinical feature (12/13), while moderate to severe hearing loss and dysarthria were seen in (10/13) patients. Symptomatic patients were treated with riboflavin doses ranging between 15 and 100 mg/Kg/day, with a median of 26 mg/Kg/day. Pre-symptomatic patients were treated with doses lower than that (as low as 5 mg/Kg/day). Patients were followed for 6 months to 12 years, with a median of 4 years. Most patients have shown significant or near-total recovery with residual symptoms (11/13), while 9/10 patients diagnosed pre-symptomatically remained symptom-free, and 2 symptomatic patients showed complete resolution of symptoms. The study emphasizes the significant interfamilial and intrafamilial variability of BVVL, and it stresses the impact of early treatment with riboflavin in the prevention of morbidity and mortality associated with this condition. The study also provides the longest cumulative follow-up of pre-symptomatically treated patients reported to date, providing preliminary evidence for the role of riboflavin in the prevention of morbidities associated with this condition.
2026-02-23 | Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
To report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to riboflavin therapy. We conducted a retrospective analysis of three pediatric cases, integrating detailed clinical phenotyping with comprehensive genetic analysis (including whole-exome/targeted sequencing, Sanger validation, and ACMG-based variant interpretation). To elucidate genotype-phenotype correlations, we interpreted these findings in the context of a literature review. All three patients carried compound heterozygous variants in the SLC52A2 gene. Each exhibited early-onset PRCA (onset age: 2 days to 6 months; hemoglobin: 29-67 g/L) and progressive neurodegeneration, including motor regression, axonal peripheral neuropathy, and sensorineural hearing loss. Riboflavin supplementation led to normalization of hemoglobin levels within four weeks and marked improvement in neurological function. This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare SLC52A2 variants in the Chinese population. Early riboflavin treatment effectively reversed anemia and partially improved neurological deficits, which may inform a new diagnostic and therapeutic approach for unexplained PRCA accompanied by neurodegenerative features.
2026-02-05 | Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic Disorder
Background : Brown-Vialetto-Van Laere (BVVL) syndrome is a rare neurodegenerative disorder caused by mutations in SLC52A2 or SLC52A3 , impairing riboflavin transport. It typically presents with sensorineural hearing loss, progressive ponto-bulbar palsy, peripheral neuropathy, and occasional respiratory compromise. While most cases follow an autosomal recessive (AR) inheritance pattern, around 30 autosomal dominant (AD) cases have been reported. We describe a novel case of pediatric-onset BVVL caused by a heterozygous SLC52A3 variant and perform a literature review of AD BVVL cases. The 18-year-old patient initially presented at age 15 with bilateral hearing loss, followed by progressive cranial neuropathies and bulbar symptoms. Genetic analysis revealed a heterozygous SLC52A3 variant of uncertain significance, inherited from her asymptomatic mother. High-dose riboflavin therapy (up to 75 mg/kg/day) led to significant clinical improvement, supporting the pathogenicity of the variant. Results : A review of 31 additional AD BVVL cases revealed that disease onset is typically later than in AR forms, with no reported deaths and carrier family members often asymptomatic. Serum acylcarnitine profiles are normal, and cerebrospinal fluid may show elevated proteins. Riboflavin supplementation always improved symptoms, including respiratory function, strength, and hearing. Conclusions : Our findings suggest that AD BVVL has a milder course than AR cases, with later onset, no mortality, and broader inter and intra-familial phenotypic variability, indicating variable expressivity. Diagnosis is challenging due to normal acylcarnitine profiles and nonspecific cerebrospinal fluid findings. Early recognition and riboflavin supplementation are crucial, and a trial of riboflavin should be considered in all patients with a clinical suspicion, even with inconclusive genetic findings.
2026-01-20 | Riboflavin responsive progressive bulbar palsy: a Brown-Vialetto-Van Laere Syndrome case report
Introduction: Brown-Vialetto-Van Laere Syndrome (BVVL) is a riboflavin transporter deficiency that usually manifests as neurosensorial deafness followed by progressive bulbar palsy (PBP) in children and young adults. It stands out as a rare cause of PBP with symptomatic treatment. Objective/methodology: Here is a case report of a patient with PBP who responded to empirical high-dose riboflavin treatment, allowing for diagnosis through therapeutic testing. Results: A 30-year-old male was admitted with dysphagia, dysarthria, and unintentional weight loss (15 kg) in the last year. Twenty years before, he had a tympanoplasty due to unexplained hearing loss and presented left facial palsy afterwards, recovering with rehab. Neurological exam showed hypogeusia in the anterior tongue, lowered palate, reduced buccal opening, bilateral palsy of the upper and lower face, neck, and tongue; fasciculations in the tongue and dysarthria. Considering the age of onset, PBP, previous history of hearing loss, magnetic resonance imaging without nerve compression and ENMG with bulbar neuron findings BVVL was considered a possible diagnosis. Due to the unavailability of genetic testing for riboflavin transporter coding gene it was opted to start high-dose riboflavin treatment empirically. He returned after 4 months of treatment, showing partial improvement on all previously listed symptoms except for upper facial palsy, which had a minor worsening. Thus, the patient was diagnosed with BVVL after a successful riboflavin response. Conclusion: While extremely rare, it is important to consider BVVL in patients with a compatible clinical history due to the possibility of symptomatic treatment. In the absence of available genetic testing, we recommend that high-dose riboflavin treatment be attempted empirically.
cell therapies
2026-04-28 | Nerve Transfer for Intrinsic Hand Dysfunction in Brown-Vialetto-Van Laere Syndrome: Expanding the Role of SETS in Motor Neuronopathies.
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder associated with progressive cranial and spinal motor neuron involvement. While typically managed conservatively, select patients may present with focal peripheral deficits amenable to surgical intervention. We report the first known case of intrinsic hand dysfunction in BVVLS treated using a supercharged end-to-side (SETS) anterior interosseous-to-ulnar motor nerve transfer. Electroneuromyography revealed isolated postganglionic ulnar motor dysfunction with preservation of the median nerve, supporting surgical candidacy. The procedure resulted in restored hand function within 6 months and sustained improvement at 5-year follow-up. This case highlights the potential for SETS nerve transfer to expand beyond compressive neuropathies and serve as a targeted strategy in progressive motor neuron disorders with preserved donor pathways.
2019-03-14 | Bilateral Facial Weakness in a Syndromic Patient: Cadaveric Fascia Lata Graft for Lower Lip Deformity Correction
Fazio-Londe syndrome is a rare neurodegenerative disorder caused by riboflavin transporter deficiency. Clinical presentation includes variable hypotonia or muscle weakness, sensory gait ataxia, optic atrophy, sensorineural hearing loss, and bulbar palsies. We described the case of a 37-year-old patient with a suspected Fazio-Londe syndrome who was referred to us for oral incompetence with dysarthria and drooling and impaired facial expression. First, we provided static sling suspension of the lower lip with Silhouette sutures (Silhouette Lift). Due to recurrent sutures exposure, we had to remove the sutures and insert a bilateral fascia lata graft to resuspend the lower lip. Two months postoperatively, the patient had good oral competence and there were no complications. In our opinion, this is a simple and minimally invasive procedure that can restore the right lower lip position in challenging patients.
2015-09-15 | Neurotologic and functional MRI findings in a patient with bilateral profound deafness having Brown-Vialetto-Van Leare syndrome.
We report the first findings of functional magnetic resonance imaging of the auditory cortex in a young woman with a bilateral cochleovestibular deficit as first manifestation of Brown-Vialetto-Van Leare syndrome. The patient had no open speech discrimination, even with hearing aids, and is depending on lip reading for communication. To evaluate the possible efficiency of a cochlear implantation, we investigated hemodynamic responses within the central auditory pathways using an auditory functional magnetic resonance imaging paradigm. Blood oxygen level-dependent correlates were detected bilaterally along the auditory pathways after exposure to intermittent clicking tone stimulation at 2 kHz. These results suggest integrity of the central auditory pathways and represent a positive argument to propose a cochlear implantation with the aim to restore hearing.
gene therapies
2025-03-26 | Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.
Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters hRFVT2 and hRFVT3. In the present study we focused on RTD Type 2, which is due to variants in SLC52A2 gene. There is no cure for RTD patients and, although studies have reported clinical improvements with administration of RF, an effective treatment is still unavailable. Here we tested gene augmentation therapy on RTD type 2 patient-derived motoneurons using an adeno-associated viral vector 2/9 (AAV9) carrying the human codon optimized SLC52A2 cDNA. We optimized the in vitro transduction of motoneurons using sialidase treatment. Treated RTD motoneurons showed a significant increase in neurite's length when compared to untreated samples demonstrating that AAV9-SLC52A2 gene therapy can rescue RTD motoneurons. This leads the path towards in vivo studies offering a potential treatment for RTD patients.
proteins
2026-01-19 | A novel nerve growth factor–based strategy activates mitophagy in riboflavin transporter deficiency
This set or raw data cannot be made publicly available as including sensitive information, but might be made available to interested researchers upon reasonable requests. Please, forward your request to: claudia.compagnucci@opbg.net
2025-12-19 | A novel therapeutic strategy using nerve growth factor promotes mitophagic pathways in patients affected by riboflavin transporter deficiency
This set of data cannot be made publicly available as including sensitive information, but might be made available to interested researcher upon reasonable requests. Please, forward your request to: claudia.compagnucci@opbg.net
small molecules
2026-08-05 | Riboflavin transporter deficiency associated with a homozygous nonsense slc52a3 variant: first genotypeÓ?phenotype correlation and literature review
Objective: The objective of the study was to describe a rare case of riboflavin (RF) transporter deficiency (RTD) caused by a homozygous nonsense variant in SLC52A3 not previously associated with a detailed clinical phenotype, and to review the clinical features, genetic findings, and therapeutic response reported in the literature.Methods: We report the clinical, neurophysiological, and genetic findings of an infant diagnosed with RTD.Molecular analysis was performed using next-generation sequencing, with variant confirmation by Sanger sequencing.Variant interpretation followed the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines.In addition, a narrative review of the literature was conducted, focusing on previously reported cases of SLC52A2 and SLC52A3 mutations.Results: The patient presented with progressive neuromuscular involvement, including hypotonia, dysphagia, and respiratory failure requiring ventilatory support.Genetic testing identified a homozygous nonsense variant in SLC52A3, predicted to result in loss of protein function.This variant has been previously deposited in ClinVar by the testing laboratory but has not been reported in published clinical cases to date.Despite early initiation of high-dose RF supplementation, no significant clinical improvement was observed.Review of the literature suggests that missense variants are more frequently associated with partial therapeutic response, whereas severe loss-of-function variants, such as nonsense mutations, are associated with poorer outcomes.Conclusions: RTD should be considered in infants with progressive neuromuscular symptoms and respiratory compromise.Although early RF supplementation remains essential, this case highlights that therapeutic response may be limited in patients harboring severe loss-of-function variants, underscoring the importance of genotype-phenotype correlations for prognosis and clinical counseling.
2026-04-30 | SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.
SLC52A3-related Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder characterized by progressive motor and sensory impairment, with high mortality rate if left untreated. We hereby report the largest cohort with SLC52A3-related BVVL from the Arabian Peninsula. A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region were retrospectively reviewed. Most patients were clinically ascertained (13/23), while 10 patients were diagnosed pre-symptomatically. 20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del. Facial diplegia was the commonest clinical feature (12/13), while moderate to severe hearing loss and dysarthria were seen in (10/13) patients. Symptomatic patients were treated with riboflavin doses ranging between 15 and 100 mg/Kg/day, with a median of 26 mg/Kg/day. Pre-symptomatic patients were treated with doses lower than that (as low as 5 mg/Kg/day). Patients were followed for 6 months to 12 years, with a median of 4 years. Most patients have shown significant or near-total recovery with residual symptoms (11/13), while 9/10 patients diagnosed pre-symptomatically remained symptom-free, and 2 symptomatic patients showed complete resolution of symptoms. The study emphasizes the significant interfamilial and intrafamilial variability of BVVL, and it stresses the impact of early treatment with riboflavin in the prevention of morbidity and mortality associated with this condition. The study also provides the longest cumulative follow-up of pre-symptomatically treated patients reported to date, providing preliminary evidence for the role of riboflavin in the prevention of morbidities associated with this condition.
2026-02-23 | Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
To report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to riboflavin therapy. We conducted a retrospective analysis of three pediatric cases, integrating detailed clinical phenotyping with comprehensive genetic analysis (including whole-exome/targeted sequencing, Sanger validation, and ACMG-based variant interpretation). To elucidate genotype-phenotype correlations, we interpreted these findings in the context of a literature review. All three patients carried compound heterozygous variants in the SLC52A2 gene. Each exhibited early-onset PRCA (onset age: 2 days to 6 months; hemoglobin: 29-67 g/L) and progressive neurodegeneration, including motor regression, axonal peripheral neuropathy, and sensorineural hearing loss. Riboflavin supplementation led to normalization of hemoglobin levels within four weeks and marked improvement in neurological function. This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare SLC52A2 variants in the Chinese population. Early riboflavin treatment effectively reversed anemia and partially improved neurological deficits, which may inform a new diagnostic and therapeutic approach for unexplained PRCA accompanied by neurodegenerative features.
2026-02-05 | Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic Disorder
Background : Brown-Vialetto-Van Laere (BVVL) syndrome is a rare neurodegenerative disorder caused by mutations in SLC52A2 or SLC52A3 , impairing riboflavin transport. It typically presents with sensorineural hearing loss, progressive ponto-bulbar palsy, peripheral neuropathy, and occasional respiratory compromise. While most cases follow an autosomal recessive (AR) inheritance pattern, around 30 autosomal dominant (AD) cases have been reported. We describe a novel case of pediatric-onset BVVL caused by a heterozygous SLC52A3 variant and perform a literature review of AD BVVL cases. The 18-year-old patient initially presented at age 15 with bilateral hearing loss, followed by progressive cranial neuropathies and bulbar symptoms. Genetic analysis revealed a heterozygous SLC52A3 variant of uncertain significance, inherited from her asymptomatic mother. High-dose riboflavin therapy (up to 75 mg/kg/day) led to significant clinical improvement, supporting the pathogenicity of the variant. Results : A review of 31 additional AD BVVL cases revealed that disease onset is typically later than in AR forms, with no reported deaths and carrier family members often asymptomatic. Serum acylcarnitine profiles are normal, and cerebrospinal fluid may show elevated proteins. Riboflavin supplementation always improved symptoms, including respiratory function, strength, and hearing. Conclusions : Our findings suggest that AD BVVL has a milder course than AR cases, with later onset, no mortality, and broader inter and intra-familial phenotypic variability, indicating variable expressivity. Diagnosis is challenging due to normal acylcarnitine profiles and nonspecific cerebrospinal fluid findings. Early recognition and riboflavin supplementation are crucial, and a trial of riboflavin should be considered in all patients with a clinical suspicion, even with inconclusive genetic findings.
2026-01-20 | Riboflavin responsive progressive bulbar palsy: a Brown-Vialetto-Van Laere Syndrome case report
Introduction: Brown-Vialetto-Van Laere Syndrome (BVVL) is a riboflavin transporter deficiency that usually manifests as neurosensorial deafness followed by progressive bulbar palsy (PBP) in children and young adults. It stands out as a rare cause of PBP with symptomatic treatment. Objective/methodology: Here is a case report of a patient with PBP who responded to empirical high-dose riboflavin treatment, allowing for diagnosis through therapeutic testing. Results: A 30-year-old male was admitted with dysphagia, dysarthria, and unintentional weight loss (15 kg) in the last year. Twenty years before, he had a tympanoplasty due to unexplained hearing loss and presented left facial palsy afterwards, recovering with rehab. Neurological exam showed hypogeusia in the anterior tongue, lowered palate, reduced buccal opening, bilateral palsy of the upper and lower face, neck, and tongue; fasciculations in the tongue and dysarthria. Considering the age of onset, PBP, previous history of hearing loss, magnetic resonance imaging without nerve compression and ENMG with bulbar neuron findings BVVL was considered a possible diagnosis. Due to the unavailability of genetic testing for riboflavin transporter coding gene it was opted to start high-dose riboflavin treatment empirically. He returned after 4 months of treatment, showing partial improvement on all previously listed symptoms except for upper facial palsy, which had a minor worsening. Thus, the patient was diagnosed with BVVL after a successful riboflavin response. Conclusion: While extremely rare, it is important to consider BVVL in patients with a compatible clinical history due to the possibility of symptomatic treatment. In the absence of available genetic testing, we recommend that high-dose riboflavin treatment be attempted empirically.
cell therapies
2026-04-28 | Nerve Transfer for Intrinsic Hand Dysfunction in Brown-Vialetto-Van Laere Syndrome: Expanding the Role of SETS in Motor Neuronopathies.
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder associated with progressive cranial and spinal motor neuron involvement. While typically managed conservatively, select patients may present with focal peripheral deficits amenable to surgical intervention. We report the first known case of intrinsic hand dysfunction in BVVLS treated using a supercharged end-to-side (SETS) anterior interosseous-to-ulnar motor nerve transfer. Electroneuromyography revealed isolated postganglionic ulnar motor dysfunction with preservation of the median nerve, supporting surgical candidacy. The procedure resulted in restored hand function within 6 months and sustained improvement at 5-year follow-up. This case highlights the potential for SETS nerve transfer to expand beyond compressive neuropathies and serve as a targeted strategy in progressive motor neuron disorders with preserved donor pathways.
2019-03-14 | Bilateral Facial Weakness in a Syndromic Patient: Cadaveric Fascia Lata Graft for Lower Lip Deformity Correction
Fazio-Londe syndrome is a rare neurodegenerative disorder caused by riboflavin transporter deficiency. Clinical presentation includes variable hypotonia or muscle weakness, sensory gait ataxia, optic atrophy, sensorineural hearing loss, and bulbar palsies. We described the case of a 37-year-old patient with a suspected Fazio-Londe syndrome who was referred to us for oral incompetence with dysarthria and drooling and impaired facial expression. First, we provided static sling suspension of the lower lip with Silhouette sutures (Silhouette Lift). Due to recurrent sutures exposure, we had to remove the sutures and insert a bilateral fascia lata graft to resuspend the lower lip. Two months postoperatively, the patient had good oral competence and there were no complications. In our opinion, this is a simple and minimally invasive procedure that can restore the right lower lip position in challenging patients.
2015-09-15 | Neurotologic and functional MRI findings in a patient with bilateral profound deafness having Brown-Vialetto-Van Leare syndrome.
We report the first findings of functional magnetic resonance imaging of the auditory cortex in a young woman with a bilateral cochleovestibular deficit as first manifestation of Brown-Vialetto-Van Leare syndrome. The patient had no open speech discrimination, even with hearing aids, and is depending on lip reading for communication. To evaluate the possible efficiency of a cochlear implantation, we investigated hemodynamic responses within the central auditory pathways using an auditory functional magnetic resonance imaging paradigm. Blood oxygen level-dependent correlates were detected bilaterally along the auditory pathways after exposure to intermittent clicking tone stimulation at 2 kHz. These results suggest integrity of the central auditory pathways and represent a positive argument to propose a cochlear implantation with the aim to restore hearing.
gene therapies
2025-03-26 | Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.
Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters hRFVT2 and hRFVT3. In the present study we focused on RTD Type 2, which is due to variants in SLC52A2 gene. There is no cure for RTD patients and, although studies have reported clinical improvements with administration of RF, an effective treatment is still unavailable. Here we tested gene augmentation therapy on RTD type 2 patient-derived motoneurons using an adeno-associated viral vector 2/9 (AAV9) carrying the human codon optimized SLC52A2 cDNA. We optimized the in vitro transduction of motoneurons using sialidase treatment. Treated RTD motoneurons showed a significant increase in neurite's length when compared to untreated samples demonstrating that AAV9-SLC52A2 gene therapy can rescue RTD motoneurons. This leads the path towards in vivo studies offering a potential treatment for RTD patients.
proteins
2026-01-19 | A novel nerve growth factor–based strategy activates mitophagy in riboflavin transporter deficiency
This set or raw data cannot be made publicly available as including sensitive information, but might be made available to interested researchers upon reasonable requests. Please, forward your request to: claudia.compagnucci@opbg.net
2025-12-19 | A novel therapeutic strategy using nerve growth factor promotes mitophagic pathways in patients affected by riboflavin transporter deficiency
This set of data cannot be made publicly available as including sensitive information, but might be made available to interested researcher upon reasonable requests. Please, forward your request to: claudia.compagnucci@opbg.net
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