Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders

Abstract
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 manifested with infantile onset chorea, developmental, and cognition delay with normal brain MRI. Conversely, autosomal dominant mutations in the GAF-B domain cause protein aggregates which results in childhood onset chorea in the context of normal cognition and development despite striatal nigral lesions. Herein, we report four cases of PDE10A-related chorea in a native Arab family with biallelic mutations in PDE10A.

Citation
Bohlega, S., Al-Qahtani, Z., Guzmán-Vega, F. J., Ramakrishnan, R., Abusrair, A., Aldosari, H., AlDakheel, A., Al-Qahtani, S., Monies, D., & Arold, S. (2023). Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders (S42.004). Wednesday, April 26. https://doi.org/10.1212/wnl.0000000000203263

Publisher
Lippincott Williams & Wilkins

Journal
NEUROLOGY

Conference/Event Name
75th Annual Meeting of the American-Academy-of-Neurology (AAN)

DOI
10.1212/WNL.0000000000203263

Additional Links
http://www.neurology.org/lookup/doi/10.1212/WNL.0000000000203263