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

Saeed Bohlega,Ali H Abusrair, Zainah Al-Qahtani,Francisco J Guzmán-Vega,Reshmi Ramakrishnan,Haya Aldosari, Amaal Aldakheel, Salma Al-Qahtani,Dorota Monies,Stefan T Arold

Parkinsonism & Related Disorders（2023）

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摘要

•PDE10A mutations are increasingly recognized in infantile- and childhood-onset chorea.•We report a novel biallelic mutation in the GAF-B domain with phenotype previously described in GAF-A domain mutation.•This work further expands the genotype-phenotype landscape of PDE10A-associated movement disorders.

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关键词

Chorea,PDE10A,ADCY5,cAMP,Striatal medium spiny neurons

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