Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease Article Swipe
Pamela Jarrett
,
Alexander S. Easton
,
Kenneth Rockwood
,
Sarah Dyack
,
Andrea M. McCollum
,
Victoria Mok Siu
,
Seyed M. Mirsattari
,
Andreu Massot‐Tarrús
,
M Beis
,
Nolan D’Souza
,
Sultan Darvesh
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1017/cjn.2017.261
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1017/cjn.2017.261
Objective: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs disease is rare, and clinical symptoms include seizures, progressive cognitive impairment, and myoclonus. Most cases of Kufs disease are autosomal recessive; however, there have been a few case reports of an autosomal dominant form linked to mutations within the DNAJC5 gene. Methods: We describe a family with Kufs disease in which the proband and three of her four children presented with cognitive impairment, seizures, and myoclonus. Results: Genetic testing of all four children was positive for a c.346_348delCTC(p.L116del) mutation in the DNAJC5 gene. The proband brain had an abundance of neuronal lipofuscin in the cerebral cortex, striatum, amygdala, hippocampus, substantia nigra, and cerebellum. There were no amyloid plaques or neurofibrillary tangles. Immunohistochemistry demonstrated that the cholinergic neurons and cholinergic projection fibers were spared, but there was a profound loss of choline acetyltransferase within the caudate, putamen, and basal forebrain. This suggests a loss of choline acetyltransferase as opposed to a loss of the neurons. Conclusions: This report describes the clinical history of autosomal dominant Kufs disease, the genetic mutation within the DNAJC5 gene, and the neuropathological findings demonstrating depletion of choline acetyltransferase in the brain.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1017/cjn.2017.261
- https://www.cambridge.org/core/services/aop-cambridge-core/content/view/DCFC4A4CAA51AC53857DFE8576F2FAFB/S031716711700261Xa.pdf/div-class-title-evidence-for-cholinergic-dysfunction-in-autosomal-dominant-kufs-disease-div.pdf
- OA Status
- bronze
- Cited By
- 11
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2773992899
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Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2773992899Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1017/cjn.2017.261Digital Object Identifier
- Title
-
Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs DiseaseWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2017Year of publication
- Publication date
-
2017-12-10Full publication date if available
- Authors
-
Pamela Jarrett, Alexander S. Easton, Kenneth Rockwood, Sarah Dyack, Andrea M. McCollum, Victoria Mok Siu, Seyed M. Mirsattari, Andreu Massot‐Tarrús, M Beis, Nolan D’Souza, Sultan DarveshList of authors in order
- Landing page
-
https://doi.org/10.1017/cjn.2017.261Publisher landing page
- PDF URL
-
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/DCFC4A4CAA51AC53857DFE8576F2FAFB/S031716711700261Xa.pdf/div-class-title-evidence-for-cholinergic-dysfunction-in-autosomal-dominant-kufs-disease-div.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/DCFC4A4CAA51AC53857DFE8576F2FAFB/S031716711700261Xa.pdf/div-class-title-evidence-for-cholinergic-dysfunction-in-autosomal-dominant-kufs-disease-div.pdfDirect OA link when available
- Concepts
-
Choline acetyltransferase, Basal forebrain, Substantia nigra, Proband, Neuroscience, Striatum, Myoclonus, Putamen, Basal ganglia, Hippocampus, Pathology, Cholinergic, Medicine, Biology, Parkinson's disease, Mutation, Dopamine, Disease, Genetics, Central nervous system, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2023: 1, 2022: 1, 2021: 1, 2020: 2Per-year citation counts (last 5 years)
- References (count)
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28Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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