期刊
MOVEMENT DISORDERS
卷 27, 期 10, 页码 1295-1303出版社
WILEY
DOI: 10.1002/mds.25008
关键词
thiamine transporter 2 deficiency; biotin-responsive basal ganglia disease; dystonia; striatal necrosis; SLC19A3 gene
资金
- Centre for Biomedical Research on Rare Diseases (CIBERER)
- CIBERNED
- Instituto de Salud Carlos III, Spain
Background: 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. Methods: 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. Results: The clinical features resolved rapidly after thiamine administration. Conclusions: Despite the rarity of thiamine transporter2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes.(C) 2012 Movement Disorder Society
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