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FB2026_01
,
released March 12, 2026
This reports describes Parkinson disease 19A/B, which is a subtype of Parkinson disease; this form of Parkinson disease is inherited as an autosomal recessive. The human gene implicated in this disease is DNAJC6, which encodes a neuronal protein that functions in the pathway of clathrin-mediated endocytosis.
Juvenile-onset Parkinson disease-19A (PARK19A) and early-onset Parkinson disease-19B (PARK19B) differ in age of onset of symptoms of parkinsonism. See the human disease model report for 'Parkinson disease, susceptibility to, auxilin-related' (FBhh0000593).
[updated Aug. 2017 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 19A, JUVENILE-ONSET; PARK19A](https://omim.org/entry/615528)
[DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6](https://omim.org/entry/608375)
Parkinson disease 19A and 19B differ in age of onset of parkinsonism. [from MIM:615528; 2017.08.11]
Juvenile-onset Parkinson disease-19A (PARK19A) and early-onset Parkinson disease-19B (PARK19B) are caused by homozygous mutation in the DNAJC6 gene. [from MIM:615528; 2017.08.11]
The endocytic membrane-trafficking pathway and disruption of synaptic vesicle endocytosis appear to play major roles in the risk of Parkinson disease. A substantial amount of genetic variation in PD and parkinsonism has been associated with vesicle trafficking via endosomal gene alterations. (Bandres-Ciga et al., 2019, pubmed:30675927; Nguyen et al., 2019, pubmed:30509690). Relevant genes include DNAJC6 (see FBhh0000594, FBhh0000593), SYNJ1 (see FBhh0000626), GAK (see FBhh0000593) and SH3GL2, which are linked to clathrin-coated vesicles, and VPS35 (see FBhh0000030) and DNAJC13 (see FBhh0001155), which participate in recycling components from the endosomes to the Golgi. In addition, LRRK2 (see FBhh0000011) and PLA2G6 (see FBhh0000243, FBhh0000232) have been shown to interact with genes involved in endocytic membrane trafficking.
Many to one: 2 human to 1 Drosophila; the human genes are GAK DNAJC6.