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Etiology and Pathophysiology of Autistic Behavior: Clues From Two Cases With an Unusual Variant of Neuroaxonal Dystrophy

Weidenheim, Karen M; Goodman, Linda; Dickson, Dennis W; Gillberg, Christopher; Råstam, Maria LU and Rapin, Isabelle (2001) In Journal of Child Neurology 16(11). p.809-819
Abstract
Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystrophy, but the clinical profile and anatomic distribution of the lesions in these two patients differed from those of previously described patients with neuroaxonal dystrophy. Spheroids were numerous in the sensory nuclei of the spinal cord and medulla, specific nuclei and the reticular formation of the brainstem tegmentum, hypothalamus, anterior and dorsomedial thalamus, hippocampus, and cingulate and orbitofrontal cortices. Spheroids were sparse in the primary and association cortices and basal ganglia and absent in the... (More)
Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystrophy, but the clinical profile and anatomic distribution of the lesions in these two patients differed from those of previously described patients with neuroaxonal dystrophy. Spheroids were numerous in the sensory nuclei of the spinal cord and medulla, specific nuclei and the reticular formation of the brainstem tegmentum, hypothalamus, anterior and dorsomedial thalamus, hippocampus, and cingulate and orbitofrontal cortices. Spheroids were sparse in the primary and association cortices and basal ganglia and absent in the hemispheric white matter. Cerebellar atrophy was present in both cases but associated with spheroids in only one case. These cases represent a new variant of neuroaxonal dystrophy in which behavioral symptoms characteristic of autism dominated the clinical picture. Neuroaxonal dystrophy should be included in the list of

diseases that may be found in persons with autism. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Child Neurology
volume
16
issue
11
pages
809 - 819
publisher
SAGE Publications Inc.
external identifiers
  • Scopus:0035216871
ISSN
0883-0738
DOI
10.1177/08830738010160110601
language
English
LU publication?
no
id
e4eefb64-a496-49f6-b899-efea969cb012 (old id 1464180)
date added to LUP
2011-02-18 15:09:15
date last changed
2016-11-16 16:47:26
@misc{e4eefb64-a496-49f6-b899-efea969cb012,
  abstract     = {Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystrophy, but the clinical profile and anatomic distribution of the lesions in these two patients differed from those of previously described patients with neuroaxonal dystrophy. Spheroids were numerous in the sensory nuclei of the spinal cord and medulla, specific nuclei and the reticular formation of the brainstem tegmentum, hypothalamus, anterior and dorsomedial thalamus, hippocampus, and cingulate and orbitofrontal cortices. Spheroids were sparse in the primary and association cortices and basal ganglia and absent in the hemispheric white matter. Cerebellar atrophy was present in both cases but associated with spheroids in only one case. These cases represent a new variant of neuroaxonal dystrophy in which behavioral symptoms characteristic of autism dominated the clinical picture. Neuroaxonal dystrophy should be included in the list of<br/><br>
diseases that may be found in persons with autism.},
  author       = {Weidenheim, Karen M and Goodman, Linda and Dickson, Dennis W and Gillberg, Christopher and Råstam, Maria and Rapin, Isabelle},
  issn         = {0883-0738},
  language     = {eng},
  number       = {11},
  pages        = {809--819},
  publisher    = {ARRAY(0xa2d9020)},
  series       = {Journal of Child Neurology},
  title        = {Etiology and Pathophysiology of Autistic Behavior: Clues From Two Cases With an Unusual Variant of Neuroaxonal Dystrophy},
  url          = {http://dx.doi.org/10.1177/08830738010160110601},
  volume       = {16},
  year         = {2001},
}