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CHMP2B p.Ala30Ser Variant in Biomarker-Confirmed Early-Onset Alzheimer Disease: A Potential Endolysosomal Disease Modifier
Totuk O, Totuk O.. Alzheimer disease and associated disorders, 2026-06-04
Topic: Amyloid, tau and blood-test diagnosis
Endolysosomal dysfunction has been increasingly implicated in the pathogenesis of neurodegenerative diseases. The charged multivesicular body protein 2B (CHMP2B) gene encodes a component of the endosomal sorting complexes required for transport (ESCRT-III), which regulates endosomal trafficking, multivesicular body formation, and autophagosome-lysosome fusion. Mutations in CHMP2B are classically associated with autosomal dominant frontotemporal dementia.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Totuk, O. (2026). CHMP2B p.Ala30Ser Variant in Biomarker-Confirmed Early-Onset Alzheimer Disease: A Potential Endolysosomal Disease Modifier. Alzheimer disease and associated disorders. https://doi.org/10.1097/wad.0000000000000737
Vancouver
Totuk O. CHMP2B p.Ala30Ser Variant in Biomarker-Confirmed Early-Onset Alzheimer Disease: A Potential Endolysosomal Disease Modifier. Alzheimer disease and associated disorders. 2026. doi:10.1097/wad.0000000000000737. PMID: 42246690.
BibTeX
@article{totuk2026-42246690,
author = {Totuk, O.},
title = {{CHMP2B p.Ala30Ser Variant in Biomarker-Confirmed Early-Onset Alzheimer Disease: A Potential Endolysosomal Disease Modifier}},
journal = {Alzheimer disease and associated disorders},
year = {2026},
doi = {10.1097/wad.0000000000000737},
pmid = {42246690},
url = {https://doi.org/10.1097/wad.0000000000000737}
}
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Key findings
- The charged multivesicular body protein 2B (CHMP2B) gene encodes a component of the endosomal sorting complexes required for transport (ESCRT-III), which regulates endosomal trafficking, multivesicular body formation, and autophagosome-lysosome fusion.
- Mutations in CHMP2B are classically associated with autosomal dominant frontotemporal dementia.
- Here, we report a 59-year-old woman with biomarker-confirmed Alzheimer disease (AD) (A+T+N+) carrying a heterozygous CHMP2B c.90C>T (p.Ala30Ser) variant identified by targeted exome sequencing after negative testing for APP, APOE, PSEN1, and PSEN2.
- The patient presented with progressive episodic memory impairment and spatial disorientation over 3 years.
Why it matters
This is a single case report of one 59-year-old woman with biomarker-confirmed Alzheimer disease who carried a rare CHMP2B variant, so it cannot show that this variant causes or modifies Alzheimer disease. It suggests researchers may want to study endolysosomal genes further, but no treatment, cure or prevention follows from one case.
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Study details
- Evidence strengthLow
How this study scored 30/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Alzheimer disease and associated disorders) |
| Journal's citation record | 1 / 4 | Alzheimer Disease & Associated Disorders: journal h-index 131 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | 0 / 6 | Cited 0.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 0 / 4 | Last-listed author Özlem Totuk: h-index 4 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | Sağlık Bilimleri Üniversitesi: institution h-index 161 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 42246690) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 30 / 100 | — |
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