Article
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
The Journal of clinical investigation - 1 Jun 2009
Kurian Manju A, Zhen Juan, Cheng Shu-Yuan, Li Yan, Mordekar Santosh R, Jardine Philip, Morgan Neil V, Meyer Esther, Tee Louise, Pasha Shanaz, Wassmer Evangeline, Heales Simon J R, Gissen Paul, Reith Maarten E A, Maher Eamonn R
Abstract excerpt
Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, the homozygous Slc6a3 knockout mouse displays a hyperactivity phenotype. Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified...
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