title: Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
abstract: OBJECTIVE
  To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations.
  
  
  METHODS
  Case reports.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Federation of Nervous System Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de la Salpêtrière, Université Pierre et Marie Curie, Paris CEDEX 13, France.
authors.forename: Rabab
authors.initials: R
authors.lastname: Debs
authors.forename: Christel
authors.initials: C
authors.lastname: Depienne
authors.forename: Agnès
authors.initials: A
authors.lastname: Rastetter
authors.forename: Agnès
authors.initials: A
authors.lastname: Bellanger
authors.forename: Bertrand
authors.initials: B
authors.lastname: Degos
authors.forename: Damien
authors.initials: D
authors.lastname: Galanaud
authors.forename: Boris
authors.initials: B
authors.lastname: Keren
authors.forename: Olivier
authors.initials: O
authors.lastname: Lyon-Caen
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000187:drug effects / Q000378:metabolism / Q000473:pathology; D001480:Basal Ganglia Diseases / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D001710:Biotin / Q000494:pharmacology* / Q000627:therapeutic use; D001928:Brain Diseases, Metabolic / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005060:Europe / Q000208:ethnology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011174:Portugal / Q000208:ethnology; D013831:Thiamine / Q000494:pharmacology / Q000627:therapeutic use; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000494:pharmacology* / Q000627:therapeutic use; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers; D026901:Membrane Transport Proteins; C492291:SLC19A3 protein, human; D014803:Vitamin B Complex; D001710:Biotin; D013831:Thiamine