Linked Life Data

2698683

Source:http://linkedlifedata.com/resource/pubmed/id/2698683

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1990-5-21
pubmed:abstractText
A review of 20 cases of giant axonal neuropathy (4 of them familial) described in the literature, and two new cases in brothers whose parents had no consanguinity is reported. A recessive autosomic pattern of inheritance is suggested. Curly hair, a typical phenotypic feature, was not initially present in our cases. This feature developed, however, later in the older brother. Clinical manifestations include an early predominantly motor polyneuropathy, subsequently involving the central nervous system. Clinical course is progressive and gait becomes impaired by the age of 10 to 13 years. Electrophysiologic studies show an axonal polyneuropathy with decreased evoked potential amplitude in motor and sensitive conduction speed. Diagnosis is achieved through a sural nerve biopsy showing an axonal thickening. Electron microscopy shows this to be related to a neurofibrillar accumulation.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0213-4853
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
24-30
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:articleTitle
[Giant axonal neuropathy. Presentation of 2 familial cases].
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports