Linked Life Data

2793417

Source:http://linkedlifedata.com/resource/pubmed/id/2793417

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1989-11-7
pubmed:abstractText
We report the electrophysiological investigation of two adult cases with GM 2 gangliosidosis with hexosaminidase A and B deficiency. Superficial peroneal biopsy was obtained from one patient. The electrophysiological alterations of the peripheral nervous system were fasciculations, signs of collateral reinnervation and loss of motor units, decrease in sensory potential amplitude and increase in distal motor latency. Increase in N9-N13 interpeak latency of the somatosensory evoked potentials and an increase I-V interpeak latency of the brain-stem auditory potentials were evident in both cases. Visual evoked potentials were normal. Nerve biopsy showed a severe loss of myelinated fibers, especially of those with the largest diameter, with no signs of segmental demyelination, or remyelination. A tentative interpretation of our findings is given.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0392-0461
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
433-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1989
pubmed:articleTitle
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.
pubmed:affiliation
Istituto di Scienze Neurologiche, Centro per lo studio delle Encefalo-Neuro-Miopatie Genetiche, Università di Siena.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't