Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, Marianna; Catteruccia, Michela; Benedetti, Sabina; Moroni, Isabella; Uziel, Graziella; Pantaleoni, Chiara; Chiapparini, Luisa; Bizzi, Alberto; D’Amico, Adele; Fattori, Fabiana; Salsano, Maria Letizia; Pastore, Anna; Tozzi, Giulia; Piemonte, Fiorella; Bertini, Enrico

doi:10.1016/j.nmd.2012.05.007

Cited by 40 publications

(43 citation statements)

References 21 publications

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“…BVVL syndrome is due to mutation of SLC52A2 and SLC52A3 genes, encoding for proteins necessary for riboflavin transport [13]. Presentation usually includes progressive BSA with sensorineural deafness, absent in 20 % cases [14,15]. The severity of proximal weakness, the absence of hearing loss, and the absence of riboflavin response made this syndrome unlikely in our patient, and testing in SLC52A2/A3 genes was negative.…”

mentioning

confidence: 68%

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

et al. 2016

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mentioning

confidence: 68%

EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

et al. 2016

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“…After exclusion of duplicates 70 reported patients (42/70 (60 %) females and 28/70 (40 %)males) with either compound heterozygous or homozygous mutations in SLC52A2 or SLC52A3 were included in the review. Of these, 37 patients (53 %) were diagnosed with a RFVT2 deficiency (SLC52A2) (Johnson et al 2012; Haack et al 2012; Ciccolella et al 2012; Foley et al 2014; Srour et al 2014; Menezes et al 2016) and 33 (47 %) with a RFVT3 deficiency (SLC52A3) (Green et al 2010; Johnson et al 2010; Bosch et al 2011; Anand et al 2012; Koy et al 2012; Dezfouli et al 2012; Ciccolella et al 2013; Bandettini Di Poggio et al 2014; Spagnoli et al 2014; Cosgrove et al 2015; Davis et al 2015; Horoz et al 2015; Spagnoli and De Sousa 2012). …”

Section: Resultsmentioning

confidence: 99%

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Jaeger

Bosch

2016

J of Inher Metab Disea

103

149

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IntroductionRiboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL) syndrome, now renamed to riboflavin transporter deficiency. Five years after the diagnosis of the first patient we performed a review of the literature to study the presentation, treatment and outcome of patients with a molecularly confirmed diagnosis of a riboflavin transporter deficiency.MethodA search was performed in Medline, Pubmed using the search terms ‘Brown-Vialetto-Van Laere syndrome’ and ‘riboflavin transporter’ and articles were screened for case reports of patients with a molecular diagnosis of a riboflavin transporter deficiency.ResultsReports on a total of 70 patients with a molecular diagnosis of a RFVT2 or RTVT3 deficiency were retrieved. The riboflavin transporter deficiencies present with weakness, cranial nerve deficits including hearing loss, sensory symptoms including sensory ataxia, feeding difficulties and respiratory difficulties which are caused by a sensorimotor axonal neuropathy and cranial neuropathy. Biochemical abnormalities may be absent and the diagnosis can only be made or rejected by molecular analysis of all genes. Treatment with oral supplementation of riboflavin is lifesaving. Therefore, if a riboflavin transporter deficiency is suspected, treatment must be started immediately without first awaiting the results of molecular diagnostics.

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“…Reduced expression (48%) of the hRFT3 gene was also observed in blood leucocytes and skin fibroblasts obtained from the patient's father, but not in the mother's tissues (figure 1D). The evaluation of the hRFT2 transporter in cells from patients and relatives was not possible since this transcript is absent in human fibroblasts 9. hRFT3 protein was undetectable in the patient's cells.…”

Section: Resultsmentioning

confidence: 99%