Background: Neuroaxonal dystrophy (NAD) is a neurodegenerative condition affecting humans and animals characterized by the widespread presence of swollen axons (spheroids).
Case Presentation: Herein, we report the pathological findings in a case of neuroaxonal dystrophy in a Dachshund-cross puppy, which was euthanized because of a proprioceptive positioning deficits and irreversible ataxia of the hind limbs. Histologically, there was a bilaterally symmetric neuroaxonal dystrophy with eosinophilic axonal spheroids exclusively localized at the level of the ventral posterior lateral nucleus of the thalamus, medial lemniscus, gracilis nucleus, medial cuneatus nucleus in the brain as well as the gracilis and cuneatus fasciculi throughout the spinal cord.
Conclusion: To the authors' knowledge, this is the first report of canine neuroaxonal dystrophy with this exclusive and specific localization only in the neuronal circuit implicated in the transmission of conscious proprioceptive information.
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http://dx.doi.org/10.1186/s13028-016-0218-3 | DOI Listing |
ACS Chem Neurosci
December 2024
Neuroscience Group of Antioquia (GNA) and Molecular Genetics Group (GENMOL), University of Antioquia, Medellín 050010, Colombia.
Neurogenetics
December 2024
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Orphanet J Rare Dis
November 2024
Andalusian Centre for Developmental Biology-CSIC-Pablo de Olavide University, 41013, Seville, Spain.
Neurocase
August 2024
Department of Psychiatry, Istanbul University-Cerrahpasa Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
Neurodegeneration with brain iron accumulation (NBIA) is a genetic disorder characterized by iron accumulation in the basal ganglia. Patients may develop behavioral abnormalities, dementia, movement disorders, and neuropsychiatric symptoms such as emotional lability, depression, anxiety, hallucinations, impulsivity, obsessions, and hyperactivity. In this case, a 46-year-old male patient with a C19orf12 mutation experienced depressive complaints before movement disorders, followed by cognitive deficits and psychotic symptoms as the disease progressed.
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