The DOI matches its Crossref record.
Puppet‐like syndrome of Angelman: A pathologic and neurochemical study
Abstract
We present the first pathologic descriptions of the puppet-like syndrome of Angelman based on autopsy studies of a 21-year-old woman. The noteworthy findings were a small brain with mild cerebral atrophy but normal gyral development. There was marked cerebellar atrophy with loss of Purkinje and granule cells and extensive Bergmann's gliosis. Study of dendrite morphology using Golgi impregnations of the visual cortex revealed a prominent decrease in dendritic arborization of layer 3 and layer 5 pyramidal neurons. Quantitative Golgi analysis also revealed a significant decrease in the numbers of dendritic spines in apical layer 3 dendrites and both apical and basal layer 5 dendrites. Neurochemical studies of frozen brain tissue demonstrated markedly reduced gamma-aminobutyric acid content in the cerebellar cortex, as well as elevated glutamate content in the frontal and occipital cortices. Although there are no definite morphologic correlates of many of the clinical signs, the pronounced dendritic pathology and neurochemical abnormalities in cerebral cortex may provide a physiologic basis for mental retardation.
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“Dendrites in layer III and V neurons of the visual cortex are shorter, less complex, and have fewer spines [176].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [176]
In the citing paper
“A neuropathological study of a subject with Angelman’s syndrome revealed a smaller brain, with no gross morphological changes, except for cerebellar atrophy, due to loss of Purkinje and granule cells [176].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [176]
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Sensory experience-dependent synaptic modifications in the visual cortex
Yashiro, K. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/02ds-km68
Roubertoux, P. L., & Carlier, M. (2016) · Springer eBooks · doi:10.1007/978-1-4939-3777-6_5
Guerrini, R., & Rosati, A. (2010) · Springer eBooks · doi:10.1007/978-1-84882-128-6_186
Phillips, K. D., & Klein-Tasman, B. (2010) · Springer eBooks · doi:10.1007/978-0-387-79948-3_1510
Wang, M., & Liu, X. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-821785-6.00002-5
Percy, A. K., Dragich, J. M., & Schanen, N. C. (2003) · Humana Press eBooks · doi:10.1007/978-1-59259-353-8_15
SUBCELLULAR FUNCTIONS OF UBE3A ISOFORMS DRIVE SYNAPTIC DYSFUNCTION IN ANGELMAN SYNDROMEPreprint
Biagioni, M., Baronchelli, F., Monachello, M., Ongaro, C., Fraviga, E., Erreni, M., Folci, A., Pozzi, D., & Fossati, M. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.24.713622
Stem-cell modeling of cerebellar dysfunction of Angelman syndrome
Maranga, C., Vieira, A. A., dos Santos, J. C., Silva, T. P., Gonçalves‐Ribeiro, J., Chébli, K., Casanova, M., Borensztein, M., Steenpaß, L., Vaz, S. H., et al. (2026) · Communications Biology · doi:10.1038/s42003-026-11008-y
Metadata
- Authors
- Jay, V., Becker, L. E., Chan, F.-W., & Perry, T. L.
- Affiliations
- University of Toronto (CA)
- ORCID
- Perry, Thomas L.
- Venue
- Neurology
- Published
- 1991-03
- Volume
- 41
- Issue
- 3
- Pages
- 416-416
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2112990976
- Cited by
- 109
- References
- 0
- Citations by year
- 2026: 2 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 5 · 2019: 3 · 2018: 3 · 2017: 4 · 2016: 5 · 2015: 3 · 2014: 5 · 2013: 4 · 2012: 3
- FWCI
- 2.10
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Angelman syndrome, cerebellar atrophy, Purkinje cell degeneration, granule cell loss, dendritic branching, dendritic spines, pyramidal neurons, GABA deficiency, cerebral cortex, intellectual disability, autopsy findings
- MeSH terms
- Adult, Brain, Female, Golgi Apparatus, Humans, Laughter, Intellectual Disability, Microcephaly, Movement Disorders, Prognathism, Speech Disorders, Syndrome, Tongue Diseases
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