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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/08830738010160110601 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFAssociation of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFStructural Analysis of Variants of the Ferritin Light Chain Protein and Its Relationship with Neuroferritinopathy.
ACS Chem Neurosci
December 2024
Neuroscience Group of Antioquia (GNA) and Molecular Genetics Group (GENMOL), University of Antioquia, Medellín 050010, Colombia.
Article Synopsis
- - Ferritin is an important protein for iron storage in the brain, but mutations in its light chains can lead to neuroferritinopathy, a rare disease with limited information available.
- - This study explored how different mutations in ferritin alter its structure and biochemical properties using bioinformatics tools and machine learning models.
- - The A96T mutation was found to reduce the size of ferritin's entry holes, which may impair its function and result in increased iron release in the brain, potentially contributing to neurodegeneration.
Neurodegeneration with brain iron accumulation 5: report of three cases.
Neurogenetics
December 2024
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- - Neurodegeneration with brain iron accumulation 5 (NBIA5) is caused by mutations in the WDR45 gene and is inherited in an X-linked fashion.
- - The study presents three Iranian patients with distinct mutations in the WDR45 gene, identified through whole-exome sequencing, including c.697 C>T, c.657_658del, and c.1004_1005del.
- - Hypothyroidism was found in two of the cases, and overall, the clinical features were consistent with existing literature, highlighting the genetic diversity of this disorder in the Iranian population.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!