Incidence and timing of diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2): A nationwide study using the French hospital discharge database
This is the first nationwide epidemiological assessment of CLN2 disease in France. The results demonstrate substantial diagnostic delays and disease burden, underscoring the need for earlier diagnosis and referral to expert centers to optimize care and offer genetic counseling to parents before conceiving subsequent offspring.
Authors
- Pierre Karam (ORCID: https://orcid.org/0000-0002-0631-8541)
- Célia Hoebeke
- Stéphane Auvin (ORCID: https://orcid.org/0000-0003-3874-9749)
- Marc-Antoine Hamandjian
Institutions
- Inserm (FR)
- Université Paris Cité (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Robert-Debré (FR)
- Hôpital de la Timone (FR)
- NeuroDiderot (FR)
- BioMarin (United States) (US)
Publication Details
- Journal
- European Journal of Paediatric Neurology
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1016/j.ejpn.2025.12.001
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- BioMarin Pharmaceutical