Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.
Features include: Skeletal muscle atrophy, Difficulty swallowing (dysphagia), Dysarthria, and Fasciculations and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 4 | Difficulty swallowing (dysphagia), Dysarthria, Fasciculations |
PFN1 function has not been fully characterized.
Amyotrophic lateral sclerosis type 18 is caused by mutations in the PFN1 gene on chromosome 17.
Genetic testing for PFN1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for amyotrophic lateral sclerosis type 18 has been reported in the published literature.
No clinical trials have been registered for amyotrophic lateral sclerosis type 18.
142 publications have been identified in PubMed for amyotrophic lateral sclerosis type 18. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 44 | 31% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
3 |
Skeletal muscle atrophy, Fasciculations, Muscle weakness |
Bones and joints | 1 | Skeletal muscle atrophy |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Research summaries
29 |
20% |
Disease patterns and progression | 24 | 17% |
Clinical study results | 19 | 13% |
Testing and diagnosis research | 16 | 11% |
Patient case studies | 4 | 3% |
New treatment approaches | 4 | 3% |
Other research | 2 | 1% |
Tang C (2026). [PMID: 41423553](https://pubmed.ncbi.nlm.nih.gov/41423553/). *Eur J Nucl Med Mol Imaging*. [Diagnostic / Biomarker]
Jiang Z (2026). [PMID: 41917768](https://pubmed.ncbi.nlm.nih.gov/41917768/). *Brain Behav*. [Gene Therapy / Novel Therapeutics]
Tarutani A (2026). [PMID: 41486180](https://pubmed.ncbi.nlm.nih.gov/41486180/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Zhou S (2026). [PMID: 42111077](https://pubmed.ncbi.nlm.nih.gov/42111077/). *Front Neurol*. [Review / Meta-Analysis]
Dogra S (2026). [PMID: 40745959](https://pubmed.ncbi.nlm.nih.gov/40745959/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Gene Therapy / Novel Therapeutics]
Vélez-Gómez B (2026). [PMID: 40643147](https://pubmed.ncbi.nlm.nih.gov/40643147/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Epidemiology / Natural History]
Silva DJD (2026). [PMID: 41871620](https://pubmed.ncbi.nlm.nih.gov/41871620/). *Arq Neuropsiquiatr*. [Basic Science / Preclinical]
Naumann M (2026). [PMID: 41603250](https://pubmed.ncbi.nlm.nih.gov/41603250/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Tian X (2026). [PMID: 41633603](https://pubmed.ncbi.nlm.nih.gov/41633603/). *Beijing Da Xue Xue Bao Yi Xue Ban*. [Epidemiology / Natural History]
Tremblay E (2026). [PMID: 42095090](https://pubmed.ncbi.nlm.nih.gov/42095090/). *iScience*. [Basic Science / Preclinical]