Abnormal myelination in Angelman syndrome
Abstract
Patients with Angelman syndrome (OMIM # 105830) are generally thought to have normal brain imaging studies except for occasional minor cerebral atrophy. We report 9 patients with genetically proven Angelman syndrome, who were examined by magnetic resonance imaging (MRI) between the ages of 7.5 months and 5 years. MRI in the 5 patients examined during infancy revealed myelination delay and a deficit of white matter. Retarded and/or abnormal myelination in Angelman syndrome seems to be a common finding that may be diagnostically misleading. This is particularly important in the evaluation of infants with possible Angelman syndrome, who present with nonspecific clinical features and have not yet developed the characteristic behavioural, language, and movement abnormalities.
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Individuals with AS also commonly exhibit a characteristic happy demeanor with prominent smiling, non-specific laughing, a general exuberance, and an attraction to water and certain types of paper and plastics.
“However, individuals with AS also commonly exhibit a characteristic happy demeanor with prominent smiling, non-specific laughing, a general exuberance [693], and an attraction to water and certain types of paper and plastics [694]”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [693]
MRI and diffusion tensor imaging studies have revealed impaired white matter integrity in subjects with Angelman syndrome, likely due to a delay in myelination.
“MRI and diffusion tensor imaging studies have revealed impaired white matter integrity in subjects with Angelman’s syndrome [281, 354, 388], likely due to a delay in myelination [146].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [146]
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- Authors
- Harting, I., Seitz, A., Rating, D., Sartor, K., Zschocke, J., Janssen, B., Ebinger, F., & Wolf, N. I.
- Affiliations
- University Hospital Heidelberg (DE)
- Corresponding author
- Harting, Inga
- Venue
- European Journal of Paediatric Neurology
- Publisher
- Elsevier BV
- Published
- 2009-05
- Volume
- 13
- Issue
- 3
- Pages
- 271-276
- ISSN
- 1090-3798 (ISSN-L)
- OpenAlex
- W2024997186
- Cited by
- 58
- References
- 21
- Citations by year
- 2026: 3 · 2024: 2 · 2022: 4 · 2021: 4 · 2020: 7 · 2019: 2 · 2018: 5 · 2017: 4 · 2016: 4 · 2015: 4 · 2014: 3 · 2013: 4 · 2012: 3
- FWCI
- 1.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Paediatric Neurology (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Angelman syndrome, brain MRI findings, infant neuroimaging, differential diagnosis, brain atrophy, neurodevelopmental disorders
- MeSH terms
- Brain, Developmental Disabilities, Child, Preschool, Female, Humans, Image Processing, Computer-Assisted, Infant, Magnetic Resonance Imaging, Male, Nerve Fibers, Myelinated, Retrospective Studies, Angelman Syndrome
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