Psychiatric manifestations in Neuronal ceroid lipofuscinoses
Stefania Della Vecchia1,2, Alessandro Simonati3, Maria Marchese1
1IRCCS Stella Maris Foundation, via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
Orphanet Journal of Rare Diseases
|June 16, 2026
Summary
Psychiatric symptoms are common in neuronal ceroid lipofuscinoses (NCLs), impacting daily life. Standardized assessments are needed to improve care and research for these rare neurodegenerative disorders.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Neuronal ceroid lipofuscinoses (NCLs) are rare genetic neurodegenerative disorders causing progressive decline.
- Emerging therapies necessitate better outcome measures beyond motor and survival endpoints.
- Psychiatric manifestations are an underexplored but significant aspect of NCLs affecting quality of life.
Purpose of the Study:
- To systematically review the current evidence on psychiatric manifestations in NCL subtypes.
- To synthesize data on prevalence, clinical spectrum, developmental trajectories, assessment, and management.
Main Methods:
- Conducted a systematic literature review adhering to PRISMA guidelines.
- Focused on studies reporting on psychiatric symptoms in various NCL subtypes.
Main Results:
- Psychiatric symptoms are highly prevalent across NCLs, including behavioral issues, anxiety, depression, and psychosis.
- Symptom expression varies with age and disease stage, influenced by neurodegeneration, genetics, and environment.
- Management is empirical, relying on limited-efficacy psychotropic medications and supportive care; assessment tools are inconsistently applied.
Conclusions:
- Psychiatric symptoms are a core, developmentally modulated feature of NCLs.
- Lack of standardized terminology and validated assessment tools hinders clinical care and research.
- Systematic phenotyping and harmonized measurement strategies are crucial for improving NCL management and research.
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