FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Parkinson disease 4
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General Information
Name
Parkinson disease 4
FlyBase ID
FBhh0000007
Disease Ontology Term
Parent Disease
Overview

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]

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 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]

Specific Disease Summary: Parkinson disease 4
OMIM report

[PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4](https://omim.org/entry/605543)

Human gene(s) implicated

[SYNUCLEIN, ALPHA; SNCA](https://omim.org/entry/163890)

Symptoms and phenotype

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).

Genetics

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]

Cellular phenotype and pathology
Molecular information

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).

External links
Disease synonyms
PARK4
Parkinson disease 4, autosomal dominant
Parkinson disease 4, autosomal dominant Lewy body
Search term: synucleinopathy
Search term: α-synucleinopathy
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

No gene orthologous to SNCA has been identified in Drosophila.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (5 groups)
      protein-protein
      Interacting group
      Assay
      References
      pull down, western blot, anti bait coimmunoprecipitation, anti tag western blot
      anti bait coimmunoprecipitation, western blot
      colocalization, fluorescence microscopy, inferred by author
      anti bait coimmunoprecipitation, western blot
      anti bait coimmunoprecipitation, western blot
      Alleles Reported to Model Human Disease (Disease Ontology) (38 alleles)
      Models Based on Experimental Evidence ( 38 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 15 )
      Allele
      Disease
      Interaction
      References
      is ameliorated by Ddcts2
      is ameliorated by Nfa-swb
      is exacerbated by ND-3911-101
      is ameliorated by VhlKK111257
      is exacerbated by cpo10-129
      is exacerbated by dlt05-188
      is exacerbated by heca06-232
      is exacerbated by ktoHMS06027
      is exacerbated by l(3)87Df10-122
      is exacerbated by simaKK102226
      is exacerbated by skd06-056
      is exacerbated by ABCB703-232
      is exacerbated by skdHMS01305
      is exacerbated by CG455306-125
      is exacerbated by skdMI12229
      is exacerbated by Cdc2702-055
      is exacerbated by skdT606
      is exacerbated by Cdk8GL00231
      is exacerbated by CycCHMS01095
      is exacerbated by Eip75B12-111
      is exacerbated by GlyRS08-107
      is ameliorated by HphKK100344
      is exacerbated by Spn31AGD5369
      is exacerbated by Spn47CGD9948
      is ameliorated by SkpAUAS.ORF
      is exacerbated by Dap160Δ1
      is exacerbated by CspR1
      is exacerbated by Ect3KK102324
      is exacerbated by Ect3NIG.3132R
      is exacerbated by Gba1bGD10253
      is exacerbated by Gba1bKK107189
      is exacerbated by Lip4GD5503
      is exacerbated by Lip4KK106457
      is exacerbated by Npc1a1
      is exacerbated by Npc1a2
      is exacerbated by Npc1aKK101077
      is exacerbated by Snmp1GD478
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (5)