Evidence map›Paper›PMID 21222599›Full record

ReviewCurrent Alzheimer research2011

Frontotemporal dementia caused by CHMP2B mutations.

A M Isaacs, P Johannsen, I Holm, J E Nielsen, FReJA consortium

Open access · bronzeAbstract readReview
In one paragraph

Review in Current Alzheimer research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

53 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Neuronal Deletion ofBiomolecules · 2025
    Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Modelling amyotrophic lateral sclerosis in rodents.Nature reviews. Neuroscience · 2022
    Review
  13. Article
  14. Frontotemporal Dementia and Glucose Metabolism.Frontiers in neuroscience · 2022
    Review
  15. Review
  16. Review
  17. Review
  18. Review
  19. Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 5 institutions in 3 countries.

A M IsaacsDepartment of Neurodegenerative Disease, VCL Institute of Neurology, Queen Square, London, UK. la.isaacs@prion.ucl.ac.uk
P Johannsen
I Holm
J E Nielsen
FReJA consortium
Aarhus University Hospital · DKMRC Prion Unit · GBNational Hospital for Neurology and Neurosurgery · GBRigshospitalet · DKUniversity of Copenhagen · DK

Funding

Medical Research Council MC_U123182015
6 · The paper itself

Abstract

CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.

Indexed as

MutationAmino Acid SequenceEndosomal Sorting Complexes Required for TransportFrontotemporal DementiaHumansMolecular Sequence DataCHMP2B protein, humanEndosomal Sorting Complexes Required for Transport

Identifiers

PMID21222599
PMCPMC3182073
OpenAlexW2170025525

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.