Article
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Human molecular genetics - 15 Aug 2013
Korvatska Olena, Strand Nicholas S, Berndt Jason D, Strovas Tim, Chen Dong-Hui, Leverenz James B, Kiianitsa Konstantin, Mata Ignacio F, Karakoc Emre, Greenup J Lynne, Bonkowski Emily, Chuang Joseph, Moon Randall T, Eichler Evan E, Nickerson Deborah A, Zabetian Cyrus P, Kraemer Brian C, Bird Thomas D, Raskind Wendy H
Abstract excerpt
We report a novel gene for a parkinsonian disorder. X-linked parkinsonism with spasticity (XPDS) presents either as typical adult onset Parkinson's disease or earlier onset spasticity followed by parkinsonism. We previously mapped the XPDS gene to a 28 Mb region on Xp11.2-X13.3. Exome sequencing of one affected individual identified five rare variants in this region, of which none was missense, nonsense or frame...
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