A PDE10A de novo mutation causes childhoodâonset chorea with diurnal fluctuations
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.27175
Abstract: Recently, de novo and bi-allelic mutations in PDE10A, encoding a cyclic nucleotide phosphodiesterase selectively expressed in striatal medium spiny neurons, have been recognized as a cause of childhood-onset chorea. Brain MRI consistently showed striking bilateral… read more here.
Keywords: diurnal fluctuations; onset chorea; chorea; mri ... See more keywords