Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills
This study provides a comprehensive description of CLN7 disease, highlighting clinical data alongside standardized neuropsychological assessments, neuroimaging, and electrophysiologic data. It emphasizes the value of importance of standardized tools for understanding disease phenotype and their potential use as endpoints in future clinical trials. The findings established can provide a baseline for developing future prospective natural history studies and potential therapeutic clinical trials.
Authors
- Benjamin Greenberg (ORCID: https://orcid.org/0000-0002-2091-8201)
- Hamza Dahshi (ORCID: https://orcid.org/0009-0000-3097-5421)
- Saima Kayani (ORCID: https://orcid.org/0000-0003-1081-6428)
- Emily R. Nettesheim (ORCID: https://orcid.org/0000-0001-8581-1205)
- Souad Messahel (ORCID: https://orcid.org/0009-0006-1491-8455)
- Andrea Lowden (ORCID: https://orcid.org/0000-0002-3204-0790)
- Berge A. Minassian
- Veronica BordesEdgar
Institutions
- Southwestern Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1186/s13023-024-03448-8
- Citations
- 3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.98
Funders
- University of Texas Southwestern Medical Center
- National Institutes of Health