| Autor: |
Mercedes, Serrano, Mónica, Rebollo, Christel, Depienne, Agnès, Rastetter, Emilio, Fernández-Álvarez, Jordi, Muchart, Loreto, Martorell, Rafael, Artuch, José A, Obeso, Belén, Pérez-Dueñas |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Movement disorders : official journal of the Movement Disorder Society. 27(10) |
| ISSN: |
1531-8257 |
| Popis: |
Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine.Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging.The clinical features resolved rapidly after thiamine administration.Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes. © 2012 Movement Disorder Society. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Plný text