Camargos, S;
Guerreiro, R;
Bras, J;
Mageste, LS;
(2018)
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family.
Neurology Genetics
, 4
(1)
, Article e215. 10.1212/NXG.0000000000000215.
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Abstract
Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is caused by mutations in the riboflavin transporter genes SLC52A2 (RFVT2) or SLC52A3 (RFVT3).2,3 It is a rare syndrome with approximately 70 cases reported worldwide, with molecular diagnoses of RFVT2 or RFVT3. 1,4 We have previously described the first Brazilian family with a clinical diagnosis of BVVL.5 In this report, we extend the clinical spectrum associated with this family and describe a new mutation related to the metabolism of riboflavin.
| Type: | Article |
|---|---|
| Title: | Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1212/NXG.0000000000000215 |
| Publisher version: | http://dx.doi.org/10.1212/NXG.0000000000000215 |
| Language: | English |
| Additional information: | This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10045392 |
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