Cited by 109Genetic Syndromes and ImprintingGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Puppet‐like syndrome of Angelman: A pathologic and neurochemical study

Jay, Venita, Becker, Laurence E., Chan, F-W., Perry, Thomas L.·1991·Neurology

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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Crossref · 10.1212/wnl.41.3.416

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  • In Angelman syndrome, dendrites in layer III and V neurons of the visual cortex are shorter, less complex, and have fewer spines.

    “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]

  • A neuropathological study of an Angelman syndrome subject found a smaller brain with no gross morphological changes except cerebellar atrophy due to loss of Purkinje and granule cells.

    “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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Authors
Jay, V., Becker, L. E., Chan, F.-W., & Perry, T. L.
Affiliations
University of Toronto (CA)
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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