Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Nature communications - 27 May 2016
Tuschl Karin, Meyer Esther, Valdivia Leonardo E, Zhao Ningning, Dadswell Chris, Abdul-Sada Alaa, Hung Christina Y, Simpson Michael A, Chong W K, Jacques Thomas S, Woltjer Randy L, Eaton Simon, Gregory Allison, Sanford Lynn, Kara Eleanna, Houlden Henry, Cuno Stephan M, Prokisch Holger, Valletta Lorella, Tiranti Valeria, Younis Rasha, Maher Eamonn R, Spencer John, Straatman-Iwanowska Ania, Gissen Paul, Selim Laila A M, Pintos-Morell Guillem, Coroleu-Lletget Wifredo, Mohammad Shekeeb S, Yoganathan Sangeetha, Dale Russell C, Thomas Maya, Rihel Jason, Bodamer Olaf A, Enns Caroline A, Hayflick Susan J, Clayton Peter T, Mills Philippa B, Kurian Manju A, Wilson Stephen W
Abstract excerpt
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance...
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