Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example Article Swipe
Diane Beysen
,
Chania De Cordt
,
Charlotte Dielman
,
Benson Ogunjimi
,
Julie Dandelooy
,
Edwin Reyniers
,
Katrien Janssens
,
Marije M.E. Meuwissen
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fneur.2021.617813
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.3389/fneur.2021.617813
Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by co-morbidities such as intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits. Despite the established role of hypoxic–ischemic injury in some CP cases, several studies suggest that birth asphyxia is actually an uncommon cause, accounting for <10% of CP cases. For children with CP in the absence of traditional risk factors, a genetic basis to their condition is increasingly suspected. Several recent studies indeed confirm copy number variants and single gene mutations with large genetic heterogeneity as an etiology in children with CP. Here, we report three patients with spastic cerebral palsy and a genetically confirmed diagnosis of Aicardi-Goutières syndrome (AGS), with highly variable phenotypes ranging from clinically suggestive to non-specific symptomatology. Our findings suggest that AGS may be a rather common cause of CP, that frequently remains undiagnosed without additional genetic testing, as in only one case a clinical suspicion of AGS was raised. Our data show that a diagnosis of AGS must be considered in cases with spastic CP, even in the absence of characteristic brain abnormalities. Importantly, a genetic diagnosis of AGS may have significant therapeutic consequences, as targeted therapies are being developed for type 1 interferonopathies, the group of diseases to which AGS belongs. Our findings demonstrate the importance of next generation sequencing in CP patients without an identifiable cause, since targeted diagnostic testing is hampered by the often non-specific presentation.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fneur.2021.617813
- OA Status
- gold
- Cited By
- 9
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3157023920
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3157023920Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fneur.2021.617813Digital Object Identifier
- Title
-
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an ExampleWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-04-22Full publication date if available
- Authors
-
Diane Beysen, Chania De Cordt, Charlotte Dielman, Benson Ogunjimi, Julie Dandelooy, Edwin Reyniers, Katrien Janssens, Marije M.E. MeuwissenList of authors in order
- Landing page
-
https://doi.org/10.3389/fneur.2021.617813Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.3389/fneur.2021.617813Direct OA link when available
- Concepts
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Cerebral palsy, Etiology, Medicine, Genetic testing, Epilepsy, Intellectual disability, Pediatrics, Genetic heterogeneity, Neurodevelopmental disorder, Spastic quadriplegia, Spastic, Phenotype, Pathology, Psychiatry, Genetics, Internal medicine, Autism, Gene, BiologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
9Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 5, 2023: 2, 2022: 1Per-year citation counts (last 5 years)
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28Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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