Etiology and pathophysiology of autistic behavior

Clues from two cases with an unusual variant of neuroaxonal dystrophy

Karen M. Weidenheim, L. Goodman, D. W. Dickson, C. Gillberg, M. Råstam, I. Rapin

Research output: Contribution to journalArticle

19 Citations (Scopus)

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 diseases that may be found in persons with autism.

Original languageEnglish (US)
Pages (from-to)809-819
Number of pages11
JournalJournal of Child Neurology
Volume16
Issue number11
StatePublished - 2001

Fingerprint

Neuroaxonal Dystrophies
Behavioral Symptoms
Autistic Disorder
Anterior Hypothalamus
Reticular Formation
Gyrus Cinguli
Presynaptic Terminals
Basal Ganglia
Prefrontal Cortex
Thalamus
Brain Stem
Atrophy
Hippocampus
Spinal Cord
Brain

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Etiology and pathophysiology of autistic behavior : Clues from two cases with an unusual variant of neuroaxonal dystrophy. / Weidenheim, Karen M.; Goodman, L.; Dickson, D. W.; Gillberg, C.; Råstam, M.; Rapin, I.

In: Journal of Child Neurology, Vol. 16, No. 11, 2001, p. 809-819.

Research output: Contribution to journalArticle

Weidenheim, Karen M. ; Goodman, L. ; Dickson, D. W. ; Gillberg, C. ; Råstam, M. ; Rapin, I. / Etiology and pathophysiology of autistic behavior : Clues from two cases with an unusual variant of neuroaxonal dystrophy. In: Journal of Child Neurology. 2001 ; Vol. 16, No. 11. pp. 809-819.
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