Batten Disease Support and Research Association

Recent papers from Batten Disease Support and Research Association

1. The Case for Master Protocols for Rare Neurological DiseasesAnnals of Neurology · 2026
2. Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodologyOrphanet Journal of Rare Diseases · 2026
3. A timeline of symptom onset and disease progression in CLN3 diseaseOrphanet Journal of Rare Diseases · 2026
4. Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 diseaseScientific Reports · 2025
5. Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in miceActa Neuropathologica Communications · 2025
6. Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 DiseaseJournal of Child Neurology · 2025
7. Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United KingdomOrphanet Journal of Rare Diseases · 2025
8. Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice2025
9. Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse modelsScience Translational Medicine · 2025
10. Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten DiseaseJournal of Inherited Metabolic Disease · 2025
11. Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventionsAustralasian Journal of Paramedicine · 2024
12. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsOrphanet Journal of Rare Diseases · 2021
13. The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and GermanyJournal of Inborn Errors of Metabolism and Screening · 2020
14. Management Strategies for CLN2 DiseasePediatric Neurology · 2017