This report describes Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development, a subtype of Parkinson disease. The human gene implicated is PTPA, which encodes protein phosphatase 2 phosphatase activator. There is one high-scoring fly ortholog, Dmel\Ptpa, for which an amorphic allele, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
Human PTPA has not been introduced into flies.
Pan-neuronally targeted RNAi knockdown of Dmel\Ptpa results in age-dependent locomotor defects in adult flies. This phenotype is reversible by treatment with L-DOPA (FBch0000146).
[updated Sept. 2023 by FlyBase; FBrf0222196]
Parkinson disease (PD) is a neurodegenerative disease usually typified by slow onset in mid to late adulthood; there are also early-onset and juvenile forms of the disease. Symptoms worsen over time and include resting tremor, muscular rigidity, bradykinesia [abnormal slowness of movement], and postural instability [impaired balance and coordination]; additional symptoms may include postural abnormalities, dysautonomia [symptoms caused by malfunction of the autonomic nervous system], dystonic cramps, and dementia. Parkinson disease is the second-most common neurodegenerative disease (after Alzheimer disease), affecting approximately 1% of the population over 50 (Polymeropoulos et al., 1996, pubmed:8895469). [from MIM:168600; 2013.07.23]
Parkinson disease is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 may be referred to as juvenile-onset disease. [from Genetics Home Reference, GHR_condition:parkinson-disease, 2015.02.13]
[PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; PARK25](https://omim.org/entry/620482)
[PROTEIN PHOSPHATASE 2 PHOSPHATASE ACTIVATOR; PTPA](https://omim.org/entry/600756)
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (PARK25) is s a progressive neurodegenerative disorder characterized by onset of parkinsonism in late childhood/adolescence and developmental delay/impaired intellectual development. Cognitive impairment is mild to moderate and nonprogressive (Fevga et al., 2023; pmid:36073231; FBrf0256308). [from MIM:620482; 2023.09.05]
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (PARK25) is caused by homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34. [from MIM:620482; 2023.09.05]
PTPA encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (Van Hoof, et al, 1995; pmid:8530035). [from MIM:600756; 2023.09.05]
High-scoring ortholog of human PTPA (3 Drosophila to 1 human).
High-scoring ortholog of human PTPA (3 Drosophila to 1 human).
High-scoring ortholog of human PTPA (3 Drosophila to 1 human).
