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 neuro-radiologie [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 Fédération de Neurologie [Salpétrière]
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.
Type de document :
Article dans une revue
JAMA neurology, American Medical Association (imprimé) / 2010, 67 (1), pp.126-30. 〈10.1001/archneurol.2009.293〉
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https://hal.inria.fr/hal-00795782
Contributeur : Olivier Colliot <>
Soumis le : jeudi 28 février 2013 - 20:09:23
Dernière modification le : mardi 26 février 2019 - 10:12:39

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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 (imprimé) / 2010, 67 (1), pp.126-30. 〈10.1001/archneurol.2009.293〉. 〈hal-00795782〉

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