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Cited by 10Lysosomal Storage Disorders ResearchAlzheimer's disease research and treatmentsAutophagy in Disease and Therapy

Converging links between adult-onset neurodegenerative Alzheimer’s disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

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Hermey, Guido, Klein, Marcel·2023·Neural Regeneration Research
DOI 10.4103/1673-5374.361544PMC PMC10075119
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Abstract

Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative disease, Alzheimer's disease, and the most common early life neurodegenerative diseases, neuronal ceroid lipofuscinoses. Genetic studies reported an overlap of clinically diagnosed Alzheimer's disease and mutations in genes known to cause neuronal ceroid lipofuscinoses. Accumulating data strongly suggest dysfunction of intracellular trafficking mechanisms and the autophagy-endolysosome system in both types of neurodegenerative disorders. This suggests shared cytopathological processes underlying these different types of neurodegenerative diseases. A better understanding of the common mechanisms underlying the different diseases is important as this might lead to the identification of novel targets for therapeutic concepts, the transfer of therapeutic strategies from one disease to the other and therapeutic approaches tailored to patients with specific mutations. Here, we review dysfunctions of the endolysosomal autophagy pathway in Alzheimer's disease and neuronal ceroid lipofuscinoses and summarize emerging etiologic and genetic overlaps.

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  • Lipofuscin is a key pathology in neuronal ceroid lipofuscinosis and GRN-linked frontotemporal dementia.

    “While lipofuscin is key pathology in neuronal ceroid lipofuscinosis and GRN-linked frontotemporal dementia”

    From Decreased lipidated ApoE‐receptor interactions confer protection against pathogenicity of ApoE and its lipid cargoes in lysosomes (2025) · cites this paper as [71]

    The Neuronal Ceroid Lipofuscinosis section calls lipofuscin accumulation the pathological hallmark of NCL. The Links to other neuronal diseases section reports accumulation of NCL-like storage material in patients with GRN-linked frontotemporal lobar degeneration, but does not establish lipofuscin as a key pathology of that condition. Page numbers are unavailable in our copy. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

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Cited by

Sorted by citations

Authors
Hermey, G., & Klein, M.
Affiliations
Universität Hamburg (DE)
Corresponding author
Hermey, Guido
ORCID
Venue
Neural Regeneration Research
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2023
Volume
18
Issue
7
Pages
1463
ISSN
1673-5374 (ISSN-L)
DOI
10.4103/1673-5374.361544
PMC
PMC10075119
OpenAlex
W4312196407
Cited by
10
References
11
Citations by year
2026: 2 · 2025: 1 · 2024: 5 · 2023: 2
FWCI
0.28
Type
journal article
Language
en
Open access
Licence
cc-by-nc-sa
Locations
  • Neural Regeneration Research (publishedVersion, cc-by-nc-sa)
  • PubMed Central (publishedVersion, cc-by-nc-sa)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
Deutsche Forschungsgemeinschaft (HE 3220/4-1, 425373668)
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Keywords
Alzheimer's disease, neuronal ceroid lipofuscinosis, intracellular trafficking, genetic overlap, therapeutic translation, lysosomal storage disease

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