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Article

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.

Acta neuropathologica - 1 Oct 2015

Clayton Emma L, Mizielinska Sarah, Edgar James R, Nielsen Troels Tolstrup, Marshall Sarah, Norona Frances E, Robbins Miranda, Damirji Hana, Holm Ida E, Johannsen Peter, Nielsen Jørgen E, Asante Emmanuel A, Collinge John, Isaacs Adrian M

Abstract excerpt

Mutations in the charged multivesicular body protein 2B (CHMP2B) cause frontotemporal dementia (FTD). We report that mice which express FTD-causative mutant CHMP2B at physiological levels develop a novel lysosomal storage pathology characterised by large neuronal autofluorescent aggregates. The aggregates are an early and progressive pathology that occur at 3 months of age and increase in both size and number...

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Identifiers

PMID: 26358247
DOI: 10.1007/s00401-015-1475-3
PMCID: PMC4575387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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