A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Vincenzo SalpietroBelen Perez-DueñasKosuke NakashimaVictoria San Antonio-ArceAndreea ManoleStephanie EfthymiouJana VandrovcovaConceicao BettencourtNiccolò E MencacciChristine KleinMichy P KellyCeri H DaviesHaruhide KimuraAlfons MacayaHenry HouldenPublished in: Movement disorders : official journal of the Movement Disorder Society (2018)
We identified a loss-of-function homozygous mutation in PDE2A associated to early-onset chorea. Our findings possibly strengthen the role of cyclic adenosine monophosphate and cyclic guanosine monophosphate metabolism in striatal medium spiny neurons as a crucial pathophysiological mechanism in hyperkinetic movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.