Document Detail

Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy.
MedLine Citation:
PMID:  11732766     Owner:  NLM     Status:  MEDLINE    
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.
K M Weidenheim; L Goodman; D W Dickson; C Gillberg; M Råstam; I Rapin
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of child neurology     Volume:  16     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-12-04     Completed Date:  2002-03-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  809-19     Citation Subset:  IM    
Department of Pathology (Neuropathology), Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York 10467, USA.
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MeSH Terms
Autistic Disorder / etiology*,  pathology*,  psychology
Brain / pathology*
Microscopy, Electron
Neuroaxonal Dystrophies / complications,  pathology*
Presynaptic Terminals / pathology

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