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Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3Mutations

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3Mutations OBSERVATION Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations Rabab Debs, MD; Christel Depienne, PhD; Agnès Rastetter; Agnès Bellanger, PhD; Bertrand Degos, MD, PhD; Damien Galanaud, MD, PhD; Boris Keren, MD; Olivier Lyon-Caen, MD; Alexis Brice, MD; Fre´de´ric Sedel, MD, PhD Objective: To report the first 2 European cases of biotin- Results: Administration of high doses of biotin or of a responsive basal ganglia disease and novel SLC19A3 combination of biotin and thiamine during encepha- mutations. lopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the Design: Case reports. SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence Setting: University hospital. of hTHTR2. Patients: A 33-year-old man and his 29-year-old sis- Conclusion: This study demonstrates that biotin- ter, both of Portuguese ancestry, presented with recur- responsive basal ganglia disease is a panethnic condi- rent episodes of encephalopathy. Between episodes pa- tion. A therapeutic trial with high doses of biotin and tients exhibited generalized dystonia, epilepsy, and thiamine seems mandatory in every unexplained en- bilateral hyperintensities of the caudate and putamen. cephalopathy with bilateral lesions of putamen and cau- date nuclei. Main Outcome Measures: Clinical and http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3Mutations

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References (10)

Publisher
American Medical Association
Copyright
Copyright 2010 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6149
eISSN
2168-6157
DOI
10.1001/archneurol.2009.293
pmid
20065143
Publisher site
See Article on Publisher Site

Abstract

OBSERVATION Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations Rabab Debs, MD; Christel Depienne, PhD; Agnès Rastetter; Agnès Bellanger, PhD; Bertrand Degos, MD, PhD; Damien Galanaud, MD, PhD; Boris Keren, MD; Olivier Lyon-Caen, MD; Alexis Brice, MD; Fre´de´ric Sedel, MD, PhD Objective: To report the first 2 European cases of biotin- Results: Administration of high doses of biotin or of a responsive basal ganglia disease and novel SLC19A3 combination of biotin and thiamine during encepha- mutations. lopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the Design: Case reports. SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence Setting: University hospital. of hTHTR2. Patients: A 33-year-old man and his 29-year-old sis- Conclusion: This study demonstrates that biotin- ter, both of Portuguese ancestry, presented with recur- responsive basal ganglia disease is a panethnic condi- rent episodes of encephalopathy. Between episodes pa- tion. A therapeutic trial with high doses of biotin and tients exhibited generalized dystonia, epilepsy, and thiamine seems mandatory in every unexplained en- bilateral hyperintensities of the caudate and putamen. cephalopathy with bilateral lesions of putamen and cau- date nuclei. Main Outcome Measures: Clinical and

Journal

JAMA Neurology – American Medical Association

Published: Jan 1, 2010

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