Linked Life Data

6801537

Source:http://linkedlifedata.com/resource/pubmed/id/6801537

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1982-5-12
pubmed:abstractText
Giant axonal neuropathy in two siblings was reported. The fact that two cases are found in the same family supports this disorder is genetically determined and recessively inherited. These two cases, similar to the cases reported in literature, had chronic peripheral neuropathy and CNS symptoms, and also petit mal absence and mental retardation in elder sister (case 1) and precocious puberty in younger sister (case 2). Sural nerve biopsies in both cases disclosed axonal swellings or giant axons filled with aggregated neurofilaments, and that aggregated intermediate-sized filaments were found within cytoplasm of Schwann cells, endothelial cells of intra and extra-neurial capillaries and of extra-neurial arterioles, perineurial cells and endoneurial fibroblasts. Skin biopsies in both cases disclosed that aggregated intermediate-sized filaments were also found within cytoplasm of fibroblasts, Langerhans' cells, melanocytes and endothelial cells of capillaries, lymphatic vessels and arterioles. The diagnosis of giant axonal neuropathy can be made only by the findings in skin biopsy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
392-404
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Giant axonal neuropathy: report of two siblings with endocrinological and histological studies.
pubmed:publicationType
Journal Article, Case Reports