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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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]
Citations
Cites
Still being checked.
Cited by
Sorted by citations
Jiang, Y.-H., Armstrong, D., Albrecht, U., Atkins, C. M., Noebels, J. L., Eichele, G., Sweatt, J. D., & Beaudet, A. L. (1998) · Neuron · doi:10.1016/s0896-6273(00)80596-6 · Cited by 852
Dendritic Spine Pathology: Cause or Consequence of Neurological Disorders?
Fiala, J. C., Spacek, J., & Harris, K. M. (2002) · Brain Research Reviews · doi:10.1016/s0165-0173(02)00158-3 · Cited by 811
Angelman syndrome: a review of the clinical and genetic aspects
Clayton-Smith, J., & Laan, L. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.2.87 · Cited by 687
Albrecht, U., Sutcliffe, J. S., Cattanach, B. M., BEECHEY, C. V., Armstrong, D. L., Gregor Eichele, C., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0997-75 · Cited by 587
Autism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
