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A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Parkinsonism, Dysarthria, Gait imbalance, and Lower limb spasticity and others; and very common findings: Scissor gait. 33 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 25 | Resting tremor, Slowness of movement (bradykinesia), Parkinsonism |
Arms and legs | 1 | Lower limb spasticity |
Bones and joints | 1 | Postural instability |
Head and neck | 1 | Hypomimic face |
Eyes | 1 | Slow saccadic eye movements |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Age of onset: adulthood.
FBXO7 encodes F-box protein 7 (522 aa). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability. Highest expression in Whole Blood (262.0 TPM) and Testis (184.1 TPM).
Parkinsonian-pyramidal syndrome is associated with mutations in the FBXO7 gene on chromosome 22.
FBXO7 is classified as a druggable target with score 0.0.
Genetic testing for FBXO7 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features, 1 very common feature, 22 common features.
No clinical trials have been registered for parkinsonian-pyramidal syndrome.
6 publications have been identified in PubMed for parkinsonian-pyramidal syndrome. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Elavarasi A (2025). [PMID: 40986939](https://pubmed.ncbi.nlm.nih.gov/40986939/). *Parkinsonism & related disorders*. [Case Report / Case Series]
Yin EP (2025). [PMID: 39973502](https://pubmed.ncbi.nlm.nih.gov/39973502/). *Journal of Parkinson's disease*. [Review / Meta-Analysis]
Rodriguez JA (2025). [PMID: 40956890](https://pubmed.ncbi.nlm.nih.gov/40956890/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Menon PJ (2024). [PMID: 38553467](https://pubmed.ncbi.nlm.nih.gov/38553467/). *NPJ Parkinson's disease*. [Epidemiology / Natural History]
Tripathi U (2024). [PMID: 38762512](https://pubmed.ncbi.nlm.nih.gov/38762512/). *NPJ Parkinson's disease*. [Basic Science / Preclinical]
Huq TS (2024). [PMID: 39117722](https://pubmed.ncbi.nlm.nih.gov/39117722/). *Communications biology*. [Basic Science / Preclinical]