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Article

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Acta neuropathologica communications - 26 Nov 2015

Benitez Bruno A, Cairns Nigel J, Schmidt Robert E, Morris John C, Norton Joanne B, Cruchaga Carlos, Sands Mark S

Abstract excerpt

Autosomal dominant adult-onset neuronal ceroid lipofuscinosis (AD-ANCL) is a multisystem disease caused by mutations in the DNAJC5 gene. DNAJC5 encodes Cysteine String Protein-alpha (CSPα), a putative synaptic protein. AD-ANCL has been traditionally considered a lysosomal storage disease based on the intracellular accumulation of ceroid material. Here, we report for the first time the pathological findings of a...

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Source

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Identifiers

PMID: 26610600
DOI: 10.1186/s40478-015-0256-5
PMCID: PMC4660676

Genes

DNAJC5

Provenance

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.PMID 26610600Read ↗

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