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Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.

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

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1
Federation of Nervous System Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de la Salpêtrière, Université Pierre et Marie Curie, Paris CEDEX 13, France.

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.

PMID:
20065143
DOI:
10.1001/archneurol.2009.293
[Indexed for MEDLINE]
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