DSTYK encodes dual serine/threonine and tyrosine protein kinase (929 aa). Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. Highest expression in Brain Cerebellar Hemisphere (33.1 TPM) and Brain Cerebellum (25.4 TPM).

Hereditary spastic paraplegia 23 is associated with mutations in the DSTYK gene on chromosome 1.

DSTYK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Genetic testing for DSTYK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 23 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hereditary spastic paraplegia 23.

21 publications have been identified in PubMed for hereditary spastic paraplegia 23. Research spans Basic Science / Preclinical (43%), Epidemiology / Natural History (19%), and Clinical Trial Publication (14%).

Recent Publications

• Amprosi M (2026). [PMID: 41586880](https://pubmed.ncbi.nlm.nih.gov/41586880/). *Journal of neurology*. [Epidemiology / Natural History]

• Xu J (2026). [PMID: 41559004](https://pubmed.ncbi.nlm.nih.gov/41559004/). *Molecular genetics &amp; genomic medicine*. [Basic Science / Preclinical]

• de Lima FD (2025). [PMID: 40993748](https://pubmed.ncbi.nlm.nih.gov/40993748/). *Orphanet journal of rare diseases*. [Clinical Trial Publication]

• Cozzi M (2025). [PMID: 40524150](https://pubmed.ncbi.nlm.nih.gov/40524150/). *Cell communication and signaling : CCS*. [Basic Science / Preclinical]

• Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clinical genetics*. [Diagnostic / Biomarker]

• Wu L (2025). [PMID: 41264248](https://pubmed.ncbi.nlm.nih.gov/41264248/). *Proceedings of the National Academy of Sciences of the United States of America*. [Epidemiology / Natural History]

• Yu Z (2025). [PMID: 39776381](https://pubmed.ncbi.nlm.nih.gov/39776381/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Basic Science / Preclinical]

• Mooijekind B (2025). [PMID: 40543407](https://pubmed.ncbi.nlm.nih.gov/40543407/). *Clinical biomechanics (Bristol, Avon)*. [Basic Science / Preclinical]

• Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]

• Özdemir TR (2025). [PMID: 40445718](https://pubmed.ncbi.nlm.nih.gov/40445718/). *Annals of Indian Academy of Neurology*. [Clinical Trial Publication]