Article
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.
Neuroscience letters - 8 Aug 2012
Kruer Michael C, Paudel Reema, Wagoner Wendy, Sanford Lynn, Kara Eleanna, Gregory Allison, Foltynie Tom, Lees Andrew, Bhatia Kailash, Hardy John, Hayflick Susan J, Houlden Henry
Abstract excerpt
Several causative genes have been identified for both dystonia-parkinsonism and neurodegeneration with brain iron accumulation (NBIA), yet many patients do not have mutations in any of the known genes. Mutations in the ATP13A2 lead to Kufor Rakeb disease, a form of autosomal recessive juvenile parkinsonism that also features oromandibular dystonia. More recently, evidence of iron deposition in the caudate and...
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