Cognitive Test Performance in CLN3 Disease Is Associated With the CLN3 Staging System (CLN3SS).
4 affiliations
- 1University of Rochester School of Medicine and Dentistry Rochester New York USA.
- 2Kennedy Krieger Institute Baltimore Maryland USA.
- 3Department of Neurology University of Rochester Medicine Rochester New York USA.
- 4Independent Consultant Pittsford New York USA.
Abstract
CLN3 disease is an inherited neurodegenerative disease, typically with childhood onset, and characterized by vision loss, seizures, cognitive decline, and difficulties. The CLN3 Staging System (CLN3SS) characterizes disease progression. Our aim was to assess differences in cognitive test scores in relation to CLN3SS among individuals with CLN3 disease. We evaluated the relationship between cognitive test performance and the CLN3SS in individuals with genetically confirmed CLN3 disease. Participants completed tasks of verbal reasoning, vocabulary knowledge, attention, fund of information, and ability to recite the alphabet. One-way ANOVA testing assessed differences in mean cognitive test score among CLN3SS score groups, and chi-square testing was used to compare the proportion in each CLN3SS group that could recite the alphabet. Data were evaluated from a sample of 85 individuals with a total 245 CLN3SS assessments conducted within 6 months of their cognitive testing, A significant decrease in test scores was found between CLN3SS Stages 1 (vision loss present) and 2 (vision loss and seizures present) for each of the cognitive tests. The proportion of participants able to recite the alphabet also decreased from Stage 1 to Stage 2 (χ2 = 12.1, p < 0.01). Cognitive ability declines with advanced disease severity in CLN3 disease, though motor disability in Stage 3 likely contributes to difficulty participating in cognitive assessment at this later disease stage. Understanding the relationship between cognition and CLN3 disease stage may help guide decision making, that is, determining who could or should undergo cognitive assessment for clinical care or for group stratification in disease modifying clinical trials.
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BibTeX
@article{moran2026cognitive,
title = {{Cognitive Test Performance in CLN3 Disease Is Associated With the CLN3 Staging System (CLN3SS).}},
author = {Samuel D Moran and Erika F Augustine and Jonathan W Mink and Marianna Pereira-Freitas and Naomi S Taggart and Jennifer Vermilion and Amy E Vierhile and Heather R Adams},
journal = {JIMD reports},
year = {2026},
month = nov,
doi = {10.1002/jmd2.70136},
url = {https://europepmc.org/article/MED/42996795},
note = {CC BY},
}
RIS
TY - JOUR
TI - Cognitive Test Performance in CLN3 Disease Is Associated With the CLN3 Staging System (CLN3SS).
AU - Samuel D Moran
AU - Erika F Augustine
AU - Jonathan W Mink
AU - Marianna Pereira-Freitas
AU - Naomi S Taggart
AU - Jennifer Vermilion
AU - Amy E Vierhile
AU - Heather R Adams
PY - 2026
DA - 2026/11/05
JO - JIMD reports
DO - 10.1002/jmd2.70136
UR - https://europepmc.org/article/MED/42996795
AB - CLN3 disease is an inherited neurodegenerative disease, typically with childhood onset, and characterized by vision loss, seizures, cognitive decline, and difficulties. The CLN3 Staging System (CLN3SS) characterizes disease progression. Our aim was to assess differences in cognitive test scores in relation to CLN3SS among individuals with CLN3 disease. We evaluated the relationship between cognitive test performance and the CLN3SS in individuals with genetically confirmed CLN3 disease. Participants completed tasks of verbal reasoning, vocabulary knowledge, attention, fund of information, and ability to recite the alphabet. One-way ANOVA testing assessed differences in mean cognitive test score among CLN3SS score groups, and chi-square testing was used to compare the proportion in each CLN3SS group that could recite the alphabet. Data were evaluated from a sample of 85 individuals with a total 245 CLN3SS assessments conducted within 6 months of their cognitive testing, A significant decrease in test scores was found between CLN3SS Stages 1 (vision loss present) and 2 (vision loss and seizures present) for each of the cognitive tests. The proportion of participants able to recite the alphabet also decreased from Stage 1 to Stage 2 (χ2 = 12.1, p < 0.01). Cognitive ability declines with advanced disease severity in CLN3 disease, though motor disability in Stage 3 likely contributes to difficulty participating in cognitive assessment at this later disease stage. Understanding the relationship between cognition and CLN3 disease stage may help guide decision making, that is, determining who could or should undergo cognitive assessment for clinical care or for group stratification in disease modifying clinical trials.
SN - 2192-8304
SN - 2192-8312
ER -