Infantile neuroaxonal dystrophy (Seitelberger's disease)

Gordon, Neil

doi:10.1017/s0012162201003036

Cited by 12 publications

(14 citation statements)

References 27 publications

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“…3 In humans, a defect in a novel pantothenate kinase gene has been shown to be responsible for Hallervorden-Spatz syndrome. 2 Reports in cats 17,18 and sheep 16 with NAD also suggest a hereditary etiology. Although it was impossible to relate the 2 litters from the present article, an inherited mode of transmission should be considered for the Papillion breed.…”

mentioning

confidence: 99%

Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Díaz¹,

Duque

Geisel

2007

Veterinary Internal Medicne

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mentioning

confidence: 99%

Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Díaz¹,

Duque

Geisel

2007

Veterinary Internal Medicne

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“…Many diseases with axonal swellings have increased frequency of seizures, most prominent in Seitelberger’s disease , infantile neuroaxonal dystrophy , cerebral malaria , traumatic brain injury and Hallervorden‐Spatz Syndrome but also seen with increased frequency in Alzheimer’s disease . The principal clinical feature of NCC is seizures; however, the trigger for seizures in NCC remains unclear.…”

Section: Discussionmentioning

confidence: 99%

“…Many diseases with axonal swellings have increased frequency of seizures, most prominent in Seitelberger's disease (13,34), infantile neuroaxonal dystrophy (32), Spheroids were more clearly observed using NFp than with np-NFp or pan-NFp antibody. Ubiquitin and SOD1 in sham sections were restricted to the cytoplasm as expected.…”

Section: Discussionmentioning

confidence: 99%

Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis

et al. 2018

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Neurocysticercosis is a parasitic brain disease caused by the larval form (Cysticercus cellulosae) of Taenia solium and is the leading cause of preventable epilepsy worldwide. However, the pathophysiology and relation to the wide range of clinical features remains poorly understood. Axonal swelling is emerging as an important early pathological finding in multiple neurodegenerative diseases and as a cause of brain injury, but has not been well described in neurocysticercosis. Histological analysis was performed on human, rat and porcine NCC brain specimens to identify axonal pathology. Rat infection was successfully carried out via two routes of inoculation: direct intracranial injection and oral feeding. Extensive axonal swellings, in the form of spheroids, were observed in both humans and rats and to a lesser extent in pigs with NCC. Spheroids demonstrated increased immunoreactivity to amyloid precursor protein and neurofilament indicating probable impairment of axonal transport. These novel findings demonstrate that spheroids are present in NCC which is conserved across species. Not only is this an important contribution toward understanding the pathogenesis of NCC, but it also provides a model to analyze the association of spheroids with specific clinical features and to investigate the reversibility of spheroid formation with antihelminthic treatment.

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“…Symptoms from INAD typically manifest themselves during early childhood, between 6 months and 3 years of age. Disease progression is rapid, resulting in severe spasticity that impairs normal movement and results in cogni-tive decline, visual impairment, and ultimately death (15,16). A major pathologic feature of INAD is the appearance of abnormal nerve endings in both the central and peripheral nervous systems.…”

mentioning

confidence: 99%

Roles of Acidic Phospholipids and Nucleotides in Regulating Membrane Binding and Activity of a Calcium-independent Phospholipase A2 Isoform

Morrison

Witte

Mayers

et al. 2012

Journal of Biological Chemistry

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Background: Ca 2ϩ -independent phospholipase A 2 (iPLA 2 ) isoforms mediate the deacylation of phospholipids. Results: Acidic phospholipids and nucleotides associate with the C. elegans iPLA 2 isoform IPLA-1 and modulate its activity. Conclusion: Acidic phospholipids and nucleotides play important roles in regulating iPLA 2 function by enhancing membrane recruitment and promoting enzyme oligomerization. Significance: These findings highlight new regulatory mechanisms that control iPLA 2 function.

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Infantile neuroaxonal dystrophy (Seitelberger's disease)

Cited by 12 publications

References 27 publications

Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis

Roles of Acidic Phospholipids and Nucleotides in Regulating Membrane Binding and Activity of a Calcium-independent Phospholipase A2 Isoform

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