Dopamine Transporter Deficiency Syndrome: A Case with Hyper‐ and Hypokinetic Extremes
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13064
Abstract: Dopamine transporter deficiency syndrome (DTDS) is a rare genetic disorder caused by variants of the SLC6A3 gene encoding the human dopamine transporter (DAT). The disease has 2 phenotypes: classic and atypical DTDS. Classic DTDS usually… read more here.
Keywords: transporter deficiency; dtds; deficiency syndrome; dopamine transporter ... See more keywords
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia
Sign Up to like & getrecommendations! Published in 2021 at "eLife"
DOI: 10.7554/elife.68039
Abstract: Parkinson disease (PD) is a progressive, neurodegenerative disorder affecting over 6.1 million people worldwide. Although the cause of PD remains unclear, studies of highly penetrant mutations identified in early-onset familial parkinsonism have contributed to our… read more here.
Keywords: infantile parkinsonism; hdat r445c; parkinsonism; parkinsonism dystonia ... See more keywords