Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study Article Swipe
Hannah Hayhurst
,
Maria‐Eleni Anagnostou
,
Helen Judith Bogle
,
John P. Grady
,
Robert W. Taylor
,
Laurence A. Bindoff
,
Robert McFarland
,
Douglass M. Turnbull
,
Nichola Z. Lax
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1111/bpa.12640
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1111/bpa.12640
Alpers’ syndrome is an early‐onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase‐gamma ( POLG ) which is essential for mitochondrial DNA (mt DNA ) replication. Alpers’ syndrome is characterized by intractable epilepsy, developmental regression and liver failure which typically affects children aged 6 months–3 years. Although later onset variants are now recognized, they differ in that they are primarily an epileptic encephalopathy with ataxia. The disorder is progressive, without cure and inevitably leads to death from drug‐resistant status epilepticus, often with concomitant liver failure. Since our understanding of the mechanisms contributing the neurological features in Alpers’ syndrome is rudimentary, we performed a detailed and quantitative neuropathological study on 13 patients with clinically and histologically‐defined Alpers’ syndrome with ages ranging from 2 months to 18 years. Quantitative immunofluorescence showed severe respiratory chain deficiencies involving mitochondrial respiratory chain subunits of complex I and, to a lesser extent, complex IV in inhibitory interneurons and pyramidal neurons in the occipital cortex and in Purkinje cells of the cerebellum. Diminished densities of these neuronal populations were also observed. This study represents the largest cohort of post‐mortem brains from patients with clinically defined Alpers’ syndrome where we provide quantitative evidence of extensive complex I defects affecting interneurons and Purkinje cells for the first time. We believe interneuron and Purkinje cell pathology underpins the clinical development of seizures and ataxia seen in Alpers’ syndrome. This study also further highlights the extensive involvement of GABA ergic neurons in mitochondrial disease.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/bpa.12640
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bpa.12640
- OA Status
- hybrid
- Cited By
- 29
- References
- 49
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2883153061
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2883153061Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1111/bpa.12640Digital Object Identifier
- Title
-
Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological studyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-07-19Full publication date if available
- Authors
-
Hannah Hayhurst, Maria‐Eleni Anagnostou, Helen Judith Bogle, John P. Grady, Robert W. Taylor, Laurence A. Bindoff, Robert McFarland, Douglass M. Turnbull, Nichola Z. LaxList of authors in order
- Landing page
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https://doi.org/10.1111/bpa.12640Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bpa.12640Direct link to full text PDF
- Open access
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bpa.12640Direct OA link when available
- Concepts
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Underpinning, Vulnerability (computing), Neuroscience, Medicine, Biology, Pathology, Computer science, Computer security, Civil engineering, EngineeringTop concepts (fields/topics) attached by OpenAlex
- Cited by
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29Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 8, 2023: 9, 2022: 2, 2021: 4Per-year citation counts (last 5 years)
- References (count)
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49Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W2768064149, https://openalex.org/W2078951111, https://openalex.org/W2512232080, https://openalex.org/W1973180473, https://openalex.org/W2002728923, https://openalex.org/W2056011043, https://openalex.org/W1924726292, https://openalex.org/W2169456044, https://openalex.org/W2134507595, https://openalex.org/W2108197952, https://openalex.org/W2134385362, https://openalex.org/W2416663317, https://openalex.org/W2163176001, https://openalex.org/W2037825756, https://openalex.org/W2088430854, https://openalex.org/W2012806115, https://openalex.org/W2100518016, https://openalex.org/W2057468082, https://openalex.org/W2156022144, https://openalex.org/W2042315877, https://openalex.org/W1554609063, https://openalex.org/W2079851117, https://openalex.org/W2086018537, https://openalex.org/W2069478832, https://openalex.org/W2051274623, https://openalex.org/W1993938369, https://openalex.org/W1986163862, https://openalex.org/W2091908657, https://openalex.org/W2029386258, https://openalex.org/W2083969161, https://openalex.org/W1972674224, https://openalex.org/W2023699381, https://openalex.org/W2226363993, https://openalex.org/W2272813075, https://openalex.org/W2100268641, https://openalex.org/W2098568090, https://openalex.org/W2072648531, https://openalex.org/W2114545533, https://openalex.org/W2007054236, https://openalex.org/W2107726290, https://openalex.org/W1977080405, https://openalex.org/W2131507123, https://openalex.org/W2549097666, https://openalex.org/W1853661044, https://openalex.org/W2133255336, https://openalex.org/W2078372358, https://openalex.org/W2018728641, https://openalex.org/W2050510668, https://openalex.org/W2416886265 |
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