Angelman's syndrome: a neuropathological study
Abstract
We report the neuropathological findings of a 3-year-old boy with Angelman's syndrome. The main abnormalities were macroscopic consisting of small temporal and frontal lobes which also showed disorganised and irregular gyri. The occipital lobes appeared flattened but were otherwise normal as were the parietal lobes. The brain stem and cerebellum appeared normal externally. Microscopically there was irregular distribution of neurons in layer 3 and in the cerebral white matter a few subcortical ectopic neurons were present in the temporal and frontal lobes. A single "Purkinje" cell heterotopia was seen but otherwise the cerebellum appeared normal.
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Another study reported absence of cerebellar changes and smaller frontal and temporal lobes in Angelman syndrome.
“Another study reported the absence of cerebellar changes and smaller frontal and temporal lobes [209].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [209]
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References 30 · Cited by 19
- Authors
- Kyriakides, T., Hallam, L. A., Hockey, A., Silberstein, P., & Kakulas, B. A.
- Affiliations
- Royal Perth Hospital (AU)
- Princess Margaret Hospital for Children (AU)
- King Edward Memorial Hospital (AU)
- ORCID
- Kyriakides, T.
- Venue
- Acta Neuropathologica
- Published
- 1992-05
- Volume
- 83
- Issue
- 6
- Pages
- 675-678
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2058433521
- Cited by
- 19
- References
- 30
- Citations by year
- 2024: 1 · 2020: 1 · 2019: 1 · 2017: 1 · 2014: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (University of Western Australia) (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
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- Angelman syndrome, neuropathology, brain malformations, cortical heterotopia, ectopic neurons, white matter, cerebellum, brainstem
- MeSH terms
- Abnormalities, Multiple, Brain, Cerebellum, Child, Preschool, Dendrites, Electroencephalography, Humans, Male, Syndrome
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