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A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.
Biomarker and diagnostic research for SQSTM1-related multisystem proteinopathy has been reported in the published literature.
No clinical trials have been registered for SQSTM1-related multisystem proteinopathy.
98 publications have been identified in PubMed for SQSTM1-related multisystem proteinopathy. Research spans Basic Science / Preclinical (29%), Review / Meta-Analysis (17%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 28 | 29% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC
Common questions about SQSTM1-related multisystem proteinopathy
Research summaries
17 |
17% |
Patient case studies | 16 | 16% |
Disease patterns and progression | 14 | 14% |
Testing and diagnosis research | 9 | 9% |
Clinical study results | 9 | 9% |
New treatment approaches | 5 | 5% |
Kitao R (2026). [PMID: 41368718](https://pubmed.ncbi.nlm.nih.gov/41368718/). *The Journal of dermatology*. [Diagnostic / Biomarker]
Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Maskell KG (2026). [PMID: 41498587](https://pubmed.ncbi.nlm.nih.gov/41498587/). *Lab on a chip*. [Case Report / Case Series]
Bonan L (2026). [PMID: 40931262](https://pubmed.ncbi.nlm.nih.gov/40931262/). *Journal of neural transmission (Vienna, Austria : 1996)*. [Review / Meta-Analysis]
Chen ZY (2026). [PMID: 41574640](https://pubmed.ncbi.nlm.nih.gov/41574640/). *CNS neuroscience & therapeutics*. [Basic Science / Preclinical]
Chen Y (2026). [PMID: 41496093](https://pubmed.ncbi.nlm.nih.gov/41496093/). *Medicine*. [Basic Science / Preclinical]
Xia X (2026). [PMID: 41737544](https://pubmed.ncbi.nlm.nih.gov/41737544/). *Degenerative neurological and neuromuscular disease*. [Epidemiology / Natural History]
Kurdi MA (2026). [PMID: 41752118](https://pubmed.ncbi.nlm.nih.gov/41752118/). *International journal of molecular sciences*. [Epidemiology / Natural History]
Abdoalsadig E (2025). [PMID: 40229738](https://pubmed.ncbi.nlm.nih.gov/40229738/). *Orphanet journal of rare diseases*. [Case Report / Case Series]
Belosludtseva NV (2025). [PMID: 40152389](https://pubmed.ncbi.nlm.nih.gov/40152389/). *Frontiers in bioscience (Landmark edition)*. [Case Report / Case Series]
AI-curated news mentioning SQSTM1-related multisystem proteinopathy
Updated Feb 18, 2026
A recent study published in PubMed explores the genetic spectrum and phenotypic variability in Chinese patients with multisystem proteinopathy and related disorders. This research enhances understanding of the genetic underpinnings and clinical manifestations of these rare conditions.