CoChat
Sign Up
Cited by 115Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenetic Neurodegenerative Diseases

Neuropathology of Rett syndrome

Jellinger, Kurt, Seitelberger, Franz, Opitz, John M., Reynolds, James F.·1986·American Journal of Medical Genetics
DOI 10.1002/ajmg.1320250528
Open this paper in CoChat — free account

Abstract

Autopsy studies in 8 girls with the Rett syndrome dying between 4 and 15 years showed: Diffuse cerebral atrophy/micrencephaly, with a decrease in brain weight by 13.8 to 33.8% of age-matched controls, apparently related to the duration of the disorder; Mild, but inconsistent diffuse cortical atrophy without developmental disorders apart from occasional microdysgenesis (three cases), but increased amounts of neuronal lipofuscin, and occasional mild astrocytic gliosis; Mild, but inconsistent spongy changes in cerebral and cerebellar white matter, optic nerve (two cases), and myelinated fascicles of the brainstem tegmentum, without signs of dys- or demyelination, and apparently different from the spongy myelinopathy common to aminoacidopathies; Most conspicuous was an underpigmentation of the substantia nigra which contained many fewer well-pigmented neurons for age (53-73%), and fewer pigmented granules per neuron, while the total number of nigral neurons and the triphasic substructure of neuromelanin were normal for age. No pathologic changes were seen in locus coeruleus, nucleus basalis of Meynert, and nucleus dorsalis raphe; Electron microscopy of autopsy material from an 11-year-old girl showed increased amounts of neuronal lipofuscin without signs of a storage disorder. Reactive and degenerating axons in the caudate nucleus were possibly related to the nigral changes, suggesting some dysfunction of the dopaminergic nigro-striatal system, while the synaptic organization of the neostriatum appeared unaffected. Peripheral nerve from a patient dying in advanced stage showed increased numbers of unmyelinated (regenerated?) axons, with almost no demyelination and few remyelinated axons, suggesting axonal degeneration rather than hypomyelination, but exogenous factors (malnutrition) cannot be excluded. The pathogenetic mechanisms of the morphologic brain lesions and their relations to clinical and neurochemical findings in Rett syndrome are unknown and deserve further intensive investigations.

Integrity signals

Registry

Crossref · 10.1002/ajmg.1320250528

Cites

44 of 44 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

  • Individuals affected by RTT display a decrease in brain volume and a concomitant reduction in head circumference.

    “Individuals affected by RTT display a decrease in brain volume and a concomitant reduction in head circumference [68,69], which are strongly associated to a smaller size of neurons and to an enhanced compaction of cells, particularly at the level of layers III and V of the cerebral cortex, substantia nigra, thalamus, cerebellum, basal ganglia, hippocampus and amygdala [70].”

    From Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome (2019) · cites this paper as [68]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Jellinger, K., Seitelberger, F., Opitz, J. M., & Reynolds, J. F.
Affiliations
  • Ludwig Boltzmann für Klinische Neurobiologie (AT)
  • University of Vienna (AT)
Corresponding author
Jellinger, Kurt
ORCID
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1986
Volume
25
Issue
S1
Pages
259-288
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
DOI
10.1002/ajmg.1320250528
OpenAlex
W1990854708
Cited by
115
References
44
Citations by year
2025: 1 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 3 · 2017: 2 · 2016: 1 · 2015: 3 · 2014: 5 · 2012: 3
FWCI
3.81
Type
journal article
Language
en
Open access
closed
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 10835 d)
Locations
  • American Journal of Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords
Rett syndrome, neuropathology, brain atrophy, microcephaly, neuromelanin, nigrostriatal pathway, caudate nucleus, astrocytic gliosis
MeSH terms
Adolescent, Atrophy, Axons, Brain, Cell Count, Child, Child, Preschool, Female, Humans, Melanins, Intellectual Disability, Microscopy, Electron, Movement Disorders, Neurons, Organ Size, Substantia Nigra, Syndrome, Tibial Nerve

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