Ontology highlight
ABSTRACT:
SUBMITTER: Nicolas G
PROVIDER: S-EPMC4169546 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Nicolas Gaël G Jacquin Agnès A Thauvin-Robinet Christel C Rovelet-Lecrux Anne A Rouaud Olivier O Pottier Cyril C Aubriot-Lorton Marie-Hélène MH Rousseau Stéphane S Wallon David D Duvillard Christian C Béjot Yannick Y Frébourg Thierry T Giroud Maurice M Campion Dominique D Hannequin Didier D
European journal of human genetics : EJHG 20140212 10
Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare. We report the case of a 20-year-old woman who presented laryngeal dystonia revealing ...[more]