PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Issue 2 (19th November 2012)

• Record Type: Journal Article
• Authors: Dezfouli, Mitra Ansari; Alavi, Afagh; Rohani, Mohammad; Rezvani, Mohamad; Nekuie, Tayebeh; Klotzle, Brandy; Tonekaboni, Seyed Hasan; Shahidi, Gholam Ali; Elahi, Elahe
• Is Part Of: Movement disorders. Volume 28:Issue 2(2013)
• Page Start: 228
• Page End: 231
• Publication Date: 2012-11-19
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25271
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="mds25271-sec-0001" sec-type="section"> <title>Background</title> <p>Neurodegeneration with brain iron accumulation (NBIA) constitutes a group of neurodegenerative disorders with pronounced iron deposition in the basal ganglia. <italic>PANK2</italic> mutations are the most common cause of these disorders. <italic>C19orf12</italic> was recently reported as another causative gene. We present phenotypic data and results of screening of <italic>PANK2</italic> and <italic>C19orf12</italic> in 11 unrelated Iranian NBIA patients.</p> </sec> <sec id="mds25271-sec-0002" sec-type="section"> <title>Methods</title> <p>Phenotypic data were obtained by neurologic examination, magnetic resonance imaging, and interviews. Mutation screening of <italic>PANK2</italic> and <italic>C19orf12</italic> was performed by sequencing.</p> </sec> <sec id="mds25271-sec-0003" sec-type="section"> <title>Results</title> <p> <italic>PANK2</italic> and <italic>C19orf12</italic> mutations were found in 7 and 4 patients, respectively. Phenotypic comparisons suggest that <italic>C19orf12</italic> mutations as compared with <italic>PANK2</italic> mutations result in a milder disease course.</p> </sec> <sec id="mds25271-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Mutations in both <italic>PANK2</italic> and <italic>C19orf12</italic> contributed significantly to NBIA in the Iranian patients. To the best of our knowledge, this is the first genetic analysis reported on a cohort of NBIA patients from the Middle East. © 2012 Movement Disorder Society</p> </sec> </abstract>