Linked Life Data

3627158

Source:http://linkedlifedata.com/resource/pubmed/id/3627158

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1987-10-15
pubmed:abstractText
Peripheral nerve conduction velocity and cortical evoked potentials were investigated in 48 patients with Friedreich's disease and in 35 relatives. There were 14 patients and 2 relatives who underwent sural nerve biopsy. In the patients sensory conduction velocity was moderately slowed, whereas sensory responses were markedly reduced. Nerve biopsy showed a severe loss of large myelinated fibers and no demyelination. On teased nerve fiber preparations, most fibers presented uniformly short internodes. No correlation was seen between sensory conduction findings or histologic abnormalities and clinical disability. In patients SSEP changes, which were constant, and VEPs, which were frequently involved, were unrelated to the severity or duration of clinical disability. There were 14 relatives who showed clinical signs of Friedreich's disease. Slightly decreased distal conduction velocity along sensory fibers was observed in more than half of the relatives. Nerve biopsy was noncontributory. In conclusion, we could not determine whether the abnormalities observed in the siblings were an expression of a heterozygotic condition, or whether they were early signs of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
503-15
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Friedreich's ataxia: electrophysiologic and histologic findings in patients and relatives.
pubmed:publicationType
Journal Article