Early-onset levodopa responsive parkinsonism in PPP2R5D mutation

The gene PPP2R5D encodes the regulatory subunit B56 of PP2A, a serine-threonine phosphatase that plays an important regulatory role in cellular processes, including proliferation, apoptosis, and signal transduction, and is primarily expressed in the brain. The de novo missense variants in the gene PPP2R5D are reported to be associated with neurodevelopmental delay, intellectual disability, macrocephaly, motor and coordination deficits, epilepsy, visual impairment, and autism spectrum disorders [1].

Source: Parkinsonism and Related Disorders - April 3, 2024 Category: Neurology Authors: Rohan Mahale, Gautham Arunachal, Deepak Chadha, Hansashree Padmanabha, Pooja M, Mathuranath Pavagada Tags: Correspondence Source Type: research