Frontotemporal Dementia Caused by CHMP2B Mutations
Author Information
Author(s): Isaacs A.M, Johannsen P, Holm I, Nielsen J.E, Consortium FReJA
Primary Institution: UCL Institute of Neurology
Hypothesis
CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD).
Conclusion
Recent advances in understanding CHMP2B mutations indicate that the mechanisms involved may be broadly relevant to neurodegenerative processes.
Supporting Evidence
- CHMP2B mutations lead to C-terminal truncations of the CHMP2B protein.
- Clinical features of FTD caused by CHMP2B mutations include personality changes and language impairments.
- Brain imaging shows generalised cortical atrophy in patients with FTD-3.
Takeaway
Some people can get a type of dementia because of changes in a specific gene called CHMP2B, which affects how brain cells work.
Methodology
The study reviews clinical features, brain imaging, neuropathology, and genetic data related to CHMP2B mutations in frontotemporal dementia.
Limitations
The study primarily focuses on a limited number of cases and may not represent all instances of FTD caused by CHMP2B mutations.
Participant Demographics
The study includes patients from a large Danish family and an unrelated Belgian familial FTD patient.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website