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General Information
Name
Parkinson disease 14
FlyBase ID
FBhh0000232
Disease Ontology Term
Parent Disease
Overview

Parkinson disease 14 is a recessive subtype of Parkinson disease (FBhh0000004). It is one of several diseases associated with the human gene PLA2G6. See the human disease model report for neurodegenerative disease, PLA2G6-related (FBhh0000243).

[updated Apr. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Parkinson disease
Symptoms and phenotype

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 OMIM: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]

Specific Disease Summary: Parkinson disease 14
OMIM report

[PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14](https://omim.org/entry/612953)

Human gene(s) implicated

[PHOSPHOLIPASE A2, GROUP VI; PLA2G6](https://omim.org/entry/603604)

Symptoms and phenotype

See general description above. See, also, the description of neurodegeneration with brain iron accumulation (FBhh0000223).

Genetics

PARK14 is caused by homozygous mutation in the PLA2G6 gene (phospholipase A2, group VI). Mutations in the PLA2G6 gene also cause forms of neurodegeneration with brain iron accumulation. [from OMIM:612953; 2016.04.05]

Cellular phenotype and pathology

Patients diagnosed with PARK14 show little or no brain iron accumulation.

Molecular information

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.

External links
Disease synonyms
adult-onset dystonia-parkinsonism
PARK14
Parkinson disease 14, early-onset
PLA2G6-related dystonia-parkinsonism
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
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        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (5)