Skip to Main content Skip to Navigation
Journal articles

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Abstract : OBJECTIVE: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN: Case reports. SETTING: University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. MAIN OUTCOME MEASURES: Clinical and radiologic findings. RESULTS: Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2. CONCLUSION: This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.
Document type :
Journal articles
Complete list of metadata
Contributor : Olivier Colliot Connect in order to contact the contributor
Submitted on : Thursday, February 28, 2013 - 8:09:23 PM
Last modification on : Friday, August 5, 2022 - 3:41:31 AM



Rabab Debs, Christel Depienne, Agnès Rastetter, Agnès Bellanger, Bertrand Degos, et al.. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.. JAMA neurology, American Medical Association, 2010, 67 (1), pp.126-30. ⟨10.1001/archneurol.2009.293⟩. ⟨hal-00795782⟩



Record views