Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

Movement Disorders

Volumn 27, Issue 10, 2012, Pages 1295-1298

  Serrano, Mercedes ^a,b   Rebollo, Mónica ^a   Depienne, Christel ^c,d   Rastetter, Agnès ^d   Fernández Álvarez, Emilio ^a   Muchart, Jordi ^a   Martorell, Loreto ^a   Artuch, Rafael ^a,b   Obeso, José A ^e   Pérez Dueñas, Belén ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY CLINIC OF NAVARRA   (Spain)

Author keywords

Biotin responsive basal ganglia disease; Dystonia; SLC19A3 gene; Striatal necrosis; Thiamine transporter 2 deficiency

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; BIOLOGICAL MARKER; BIOTIN; CARNITINE; DIAZEPAM; LACTIC ACID; SLC19A3 PROTEIN; THIAMINE; TRIHEXYPHENIDYL; UBIDECARENONE; UNCLASSIFIED DRUG;

ACUTE GASTROENTERITIS; ADULT; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CONFUSION; DYSARTHRIA; EXERCISE; FEMALE; FEMUR FRACTURE; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC DISORDER; HEMISPHERE; HUMAN; HYPOKINESIA; MALE; MITOCHONDRIAL ENCEPHALOPATHY; MULTIPLE TRAUMA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; RIGIDITY; SPEECH DISORDER; THIAMINE TRANSPORTER 2 DEFICIENCY; TRAUMATIC BRAIN INJURY; TREMOR;

ADOLESCENT; ALANINE; BASAL GANGLIA; BASAL GANGLIA DISEASES; CHILD, PRESCHOOL; CHOLINE; DYSTONIC DISORDERS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MEMBRANE TRANSPORT PROTEINS; SIBLINGS;

EID: 84866288818     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25008     Document Type: Article

References (7)

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