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ceroid lipofuscinosis, neuronal, 6A (CLN6) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include: Motor deterioration, Abnormal nervous system electrophysiology, Progressive visual loss, and Seizure and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Seizure
Eyes	1	Retinal degeneration
Arms and legs	1	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

39 publications have been identified in PubMed for ceroid lipofuscinosis, neuronal, 6A. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	13	33%
Laboratory research	10	26%
Disease patterns and progression	7	18%
Testing and diagnosis research	3	8%
New treatment approaches	3	8%
Clinical study results	2	5%
Research summaries	1	3%

Recent Publications

Liu K (2026). [PMID: 41986128](https://pubmed.ncbi.nlm.nih.gov/41986128/). *Zhonghua Yi Xue Za Zhi*. [Case Report / Case Series]
Chaoul V (2026). [PMID: 41827875](https://pubmed.ncbi.nlm.nih.gov/41827875/). *Cells*. [Basic Science / Preclinical]
Oliveira JA (2026). [PMID: 41160491](https://pubmed.ncbi.nlm.nih.gov/41160491/). *J Child Neurol*. [Review / Meta-Analysis]
Tsuchie H (2026). [PMID: 42186472](https://pubmed.ncbi.nlm.nih.gov/42186472/). *Yonago Acta Med*. [Case Report / Case Series]
Chandra S (2026). [PMID: 42146023](https://pubmed.ncbi.nlm.nih.gov/42146023/). *NeuroImmune Pharm Ther*. [Gene Therapy / Novel Therapeutics]
Raman R (2026). [PMID: 41576655](https://pubmed.ncbi.nlm.nih.gov/41576655/). *Mol Genet Metab*. [Gene Therapy / Novel Therapeutics]
Fote GM (2025). [PMID: 40845388](https://pubmed.ncbi.nlm.nih.gov/40845388/). *J Neurosurg Pediatr*. [Clinical Trial Publication]
Corti S (2025). [PMID: 40706588](https://pubmed.ncbi.nlm.nih.gov/40706588/). *Cell Rep Med*. [Gene Therapy / Novel Therapeutics]
Schulz A (2025). [PMID: 40162009](https://pubmed.ncbi.nlm.nih.gov/40162009/). *Front Neurol*. [Epidemiology / Natural History]
Chaoul V (2025). [PMID: 40358187](https://pubmed.ncbi.nlm.nih.gov/40358187/). *Cells*. [Basic Science / Preclinical]

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ceroid lipofuscinosis, neuronal, 6A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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External Resources

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ceroid lipofuscinosis, neuronal, 6A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team