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A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.
Features include: Lewy bodies, Parkinsonism, Orthostatic hypotension, and Problems with involuntary body functions (abnormal autonomic nervous system physiology) and 4 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Parkinsonism, Problems with involuntary body functions (abnormal autonomic nervous system physiology), Hallucinations |
SNCA function has not been fully characterized.
Autosomal dominant Parkinson disease 4 is associated with mutations in the SNCA gene on chromosome 4.
Genetic testing for SNCA is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal dominant Parkinson disease 4 has been reported in the published literature.
6 clinical trials registered, 4 recruiting. Interventions under study include other interventions and procedural interventions. Pipeline includes 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT04724941](https://clinicaltrials.gov/study/NCT04724941) |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:17 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Growth and development |
1 |
Weight loss |
Prodromal Alpha-Synuclein Screening in Parkinson's Disease Study
— |
University Hospital Schleswig-Holstein |
RECRUITING |
[NCT06949670](https://clinicaltrials.gov/study/NCT06949670) | Alpha-Synuclein PET/CT in Various α-Syn-Related Disease | — | Tianjin Medical University | RECRUITING |
[NCT05347407](https://clinicaltrials.gov/study/NCT05347407) | Parkinson's Disease Biomarkers in Nerve Cells in the Gut | — | Weill Medical College of Cornell University | RECRUITING |
[NCT07348250](https://clinicaltrials.gov/study/NCT07348250) | Open-label Study to Evaluate Brain α-Synuclein Deposition Using PET and [18F]MK-0947 in Parkinson's Disease | EARLY_PHASE1 | Invicro | UNKNOWN |
[NCT05573542](https://clinicaltrials.gov/study/NCT05573542) | Early Signs of Parkinsons Disease in IBS | — | Örebro University, Sweden | ENROLLING_BY_INVITATION |
20 publications have been identified in PubMed for autosomal dominant Parkinson disease 4. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (21%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 37% |
Patient case studies | 4 | 21% |
Disease patterns and progression | 4 | 21% |
Research summaries | 2 | 11% |
Testing and diagnosis research | 1 | 5% |
Clinical study results | 1 | 5% |
van Prooije TH (2026). [PMID: 41504274](https://pubmed.ncbi.nlm.nih.gov/41504274/). *Mov Disord*. [Diagnostic / Biomarker]
Liu X (2026). [PMID: 42072468](https://pubmed.ncbi.nlm.nih.gov/42072468/). *Biomedicines*. [Basic Science / Preclinical]
Kirthana SH (2026). [PMID: 42132968](https://pubmed.ncbi.nlm.nih.gov/42132968/). *Cerebellum*. [Case Report / Case Series]
Kang C (2026). [PMID: 41734945](https://pubmed.ncbi.nlm.nih.gov/41734945/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]
Saucier J (2026). [PMID: 41630926](https://pubmed.ncbi.nlm.nih.gov/41630926/). *Neurol Genet*. [Basic Science / Preclinical]
Braccia A (2025). [PMID: 39864405](https://pubmed.ncbi.nlm.nih.gov/39864405/). *J Neuropathol Exp Neurol*. [Case Report / Case Series]
Casaletto KB (2025). [PMID: 39816189](https://pubmed.ncbi.nlm.nih.gov/39816189/). *Brain Commun*. [Review / Meta-Analysis]
Saloner R (2025). [PMID: 40380000](https://pubmed.ncbi.nlm.nih.gov/40380000/). *Nat Aging*. [Basic Science / Preclinical]
Chen YK (2025). [PMID: 39508583](https://pubmed.ncbi.nlm.nih.gov/39508583/). *Mov Disord*. [Clinical Trial Publication]
Yska HAF (2025). [PMID: 40646711](https://pubmed.ncbi.nlm.nih.gov/40646711/). *Mov Disord*. [Epidemiology / Natural History]