Giant axonal neuropathy ? A unique case with segmental neurofilamentous masses

Asbury, Arthur K.; Gale, Marika Kirstin; Cox, Stephen; Baringer, J. Richard; Berg, Bruce O.

doi:10.1007/bf00686905

Cited by 205 publications

(139 citation statements)

References 22 publications

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“…For instance, proximal axonal enlargements called spheroids are found amyotrophic lateral sclerosis (Carpenter, 1968;Hirano et al, 1984a,b;Corbo and Hays, 1992). Giant axons filled with segmental packed NF proteins are pathological characteristics of giant axonal neuropathy (Asbury et al, 1972;Bomont et al, 2000). Such disorganized NFs are probably the result of defective turnover or transport of NF proteins along the axons.…”

Section: Discussionmentioning

confidence: 99%

Conditional NF-L Transgene Expression in Mice forIn VivoAnalysis of Turnover and Transport Rate of Neurofilaments

Millecamps¹,

Gowing²,

Corti³

et al. 2007

J. Neurosci.

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Section: Discussionmentioning

confidence: 99%

Conditional NF-L Transgene Expression in Mice forIn VivoAnalysis of Turnover and Transport Rate of Neurofilaments

Millecamps¹,

Gowing²,

Corti³

et al. 2007

J. Neurosci.

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“…However, the absence of neurofilament positivity with immunohistochemistry, together with the negative Bodian staining, suggests that the material does not contain any of the normal major subunits associated with neurofilament triplet proteins in 2 This is distinct from the human form of giant axonal neuropathy, in which the axonal aggregates are both argyrophilic and neurofilament positive. 1,20 The lack of staining with Gallyas stain further indicates that the aggregates do not contain tau protein, 13 a microtubule-associated protein. Although formalin fixation precluded further identification of the material, it is possible that the bodies may represent an accumulation of other structural elements of neurons, such as internexin, nestin, peripherin, or β-tubulin III.…”

Section: Research-article2015mentioning

confidence: 99%

Giant axonal neuropathy–like disease in an Alexandrine parrot (Psittacula eupatria)

et al. 2015

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A chronic progressive neurological condition in an Alexandrine parrot (Psittacula eupatria) was manifest as intention tremors, incoordination, and seizure activity. Histology revealed large eosinophilic bodies throughout the central nervous system, and electron microscopy demonstrated that these bodies were greatly expanded axons distended by short filamentous structures that aggregated to form long strands. The presence of periodic acid–Schiff-positive material within the neuronal bodies of Purkinje cells and ganglionic neurons is another distinctive feature of this disease. The histological features of this case display some features consistent with giant axonal neuropathy as reported in humans and dogs. Based on investigation of the lineage in this case, an underlying inherited defect is suspected, but some additional factor appears to have altered the specific disease presentation in this bird.

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“…Thus, we reduced the GAN interval from the initial 5-cM region to a < 590 kb interval contained in a single YAC, representing an important step toward the identification of the GAN gene on chromosome 16q24. 1 It is puzzling that none of the three other Tunisian GAN haplotypes share a significant segment between them or with the haplotype from families II and III. This might reflect the presence of four different GAN mutations in the Tunisian population or that very ancient and close historical recombinations have reduced the shared segment of the remaining families, as has already been shown in another Tunisian recessive disease.…”

Section: Familiesmentioning

confidence: 99%

Giant axonal neuropathy locus refinement to a < 590 kb critical interval

Cavalier

Benhamida²,

Amouri³

et al. 2000

Eur J Hum Genet

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Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterisedclinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, skeletal abnormalities and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments. We recently localised the GAN locus in 16q24.1 to a 5-cM interval between the D16S507 and D16S511 markers by homozygosity mapping in three consanguineous Tunisian families. We have now established a contig-based physical map of the region comprising YACs and BACs where we have placed four genes, ten ESTs, three STSs and two additional microsatellite markers, and where we have identified six new SSCP polymorphisms and six new microsatellite markers. Using these markers, we have refined the position of our previous flanking recombinants. We also identified a shared haplotype between two Tunisian families and a small region of homozygosity in a Turkish family with distant consanguinity, both suggesting the occurrence of historic recombinations and supporting the conclusions based on the phase-known recombinations. Taken together, these results allow us to establish a transcription map of the region, and to narrow down the GAN position to a < 590 kb critical interval, an important step toward the identification of the defective gene.

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Giant axonal neuropathy ? A unique case with segmental neurofilamentous masses

Cited by 205 publications

References 22 publications

Conditional NF-L Transgene Expression in Mice forIn VivoAnalysis of Turnover and Transport Rate of Neurofilaments

Conditional NF-L Transgene Expression in Mice forIn VivoAnalysis of Turnover and Transport Rate of Neurofilaments

Giant axonal neuropathy–like disease in an Alexandrine parrot (Psittacula eupatria)

Giant axonal neuropathy locus refinement to a < 590 kb critical interval

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