Etiology and Pathophysiology of Autistic Behavior: Clues From Two Cases With an Unusual Variant of Neuroaxonal Dystrophy
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1464180
- author
- Weidenheim, Karen M ; Goodman, Linda ; Dickson, Dennis W ; Gillberg, Christopher ; Råstam, Maria LU and Rapin, Isabelle
- publishing date
- 2001
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Child Neurology
- volume
- 16
- issue
- 11
- pages
- 809 - 819
- publisher
- SAGE Publications
- 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
- 2016-04-04 10:08:03
- date last changed
- 2022-01-29 19:48:20
@article{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 = {{SAGE Publications}}, 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}}, doi = {{10.1177/08830738010160110601}}, volume = {{16}}, year = {{2001}}, }