Niemann-Pick disease type C (NPC) is a lysosomal lipid-trafficking disorder with progressive neurodegeneration and cerebellar dysfunction. Although balance impairment is prominent, vestibular-system involvement remains poorly characterized....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable clinical change; this is a preclinical mouse study that characterises a disease mechanism and does not yet translate to clinical management of Niemann-Pick type C patients.
Identifying vestibular dysfunction as a feature of lysosomal lipid-trafficking disease opens a potential new target for monitoring or treating balance impairment in Niemann-Pick type C and related lysosomal storage disorders.
- 01Npc1-knockout mice (a model of Niemann-Pick disease type C) show altered vestibular-related reflex responses.
- 02Findings link lysosomal lipid-trafficking dysfunction directly to balance system impairment.
- 03Study is preclinical — conducted in an animal model, not in humans.
- 04Results may motivate future research into vestibular screening or therapy in lysosomal storage diseases.
- 05No human clinical data are presented in this study.
Npc1-knockout mice exhibit altered vestibular-related reflex responses compared to wild-type mice.
studysupportedLysosomal lipid-trafficking dysfunction is linked to balance impairment in the Npc1 model.
studypartially supported- PMID
- 42822755
- DOI
- 10.1016/j.brainres.2026.150573.
- Journal
- Brain Research
- Publication type
- research_article
- Evidence level
- 4
- Population
- Npc1-knockout mice (animal model of Niemann-Pick disease type C)
- Intervention
- Npc1 gene knockout (lysosomal lipid-trafficking disruption)
- Comparator
- Wild-type mice
Primary outcomes
Vestibular-related reflex response characteristics in Npc1-knockout vs. wild-type mice