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

Rabab Debs Christel Depienne 1, 2 Agnès Rastetter Agnès Bellanger Bertrand Degos Damien Galanaud 3, 4 Boris Keren 1 Olivier Lyon-Caen Alexis Brice 2, 1 Frédéric Sedel 5, 6
1 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
2 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
3 Service de Neuroradiologie [CHU Pitié-Salpêtrière]
4 NEMESIS-CRICM - Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
5 Pathology Department
6 CHU Pitié-Salpêtrière [AP-HP]
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.
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https://hal.inria.fr/hal-00795782
Contributor : Olivier Colliot <>
Submitted on : Thursday, February 28, 2013 - 8:09:23 PM
Last modification on : Friday, June 11, 2021 - 9:06:03 AM

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CNRS | ICM | UPMC | SORBONNE-UNIVERSITE | SU-MEDECINE

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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⟩

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