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

Arch Neurol 2010 Jan;67(1):126-30

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

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.

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Source
http://dx.doi.org/10.1001/archneurol.2009.293DOI Listing
January 2010
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