Article
Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.
Parkinsonism & related disorders - 1 Mar 2023
Bohlega Saeed, Abusrair Ali H, Al-Qahtani Zainah, Guzmán-Vega Francisco J, Ramakrishnan Reshmi, Aldosari Haya, Aldakheel Amaal, Al-Qahtani Salma, Monies Dorota, Arold Stefan T
Abstract excerpt
BACKGROUND: Phosphodiesterase 10A (PDE10A) controls body movements by regulating cyclic adenosine monophosphate signaling in the basal ganglia. Two classes of PDE10A variants are reported with distinctive genotype-phenotype correlation. The autosomal recessive mutations in the GAF-A and catalytic domains are associated with compromised membrane localization, and manifest with infantile onset chorea,...
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