Parkinson disease 4 (PARK4), is a subtype of Parkinson disease. It is caused by whole-gene multiplication (frequently triplication) of the alpha-synuclein gene (SNCA), the causative gene of PARK1. See the report for Parkinson disease 1 (FBhh0000006) for further information.
[updated Jul 2015 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 4, AUTOSOMAL DOMINANT; PARK4](https://omim.org/entry/605543)
[SYNUCLEIN, ALPHA; SNCA](https://omim.org/entry/163890)
Symptoms are typically early in onset (typically in the thirties); dementia is frequently observed. [from MIM:605543; 2015.07.27] See general description above and report for Parkinson disease 1 (FBhh0000006).
PARK4 is inherited as an autosomal dominant and is caused by whole-gene multiplication (frequently triplication) of the alpha-synuclein gene (SNCA). Alterations in SNCA gene dosage due to rearrangements may be more common than point mutations. (Ibanez et al. 2006, pubmed:19139307) [from MIM:605543; 2015.07.27]
One of several diseases collectively described as synucleinopathies; there has recently been developed a skin biopsy that allows early detection of phosphorylated α-synuclein in patients with synucleinopathies (Gibbons et al., 2024; pubmed:38506839).
No gene orthologous to SNCA has been identified in Drosophila.