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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

✍ Scribed by Del Giudice, Ennio; Macca, Marina; Imperati, Floriana; D’Amico, Alessandra; Parent, Philippe; Pasquier, Laurent; Layet, Valerie; Lyonnet, Stanislas; Stamboul-Darmency, Veronique; Thauvin-Robinet, Christel; Franco, Brunella


Book ID
125402817
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
480 KB
Volume
9
Category
Article
ISSN
1750-1172

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## Abstract We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the __NPC1__ gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography