Linked Life Data

20869730

Source:http://linkedlifedata.com/resource/pubmed/id/20869730

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2010-10-18
pubmed:abstractText
The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration sense, areflexia, indifferent plantar responses, preserved muscle volume and strength, and oculomotor apraxia; elevated levels of serum alpha-fetoprotein and creatine-kinase were found. A homozygous missense mutation, causing a substitution of a molecule of arginine for histidine at the helicase domain of the senataxin protein, was found. Two electrophysiological studies were performed, in which decreased amplitudes of the sensory action potentials were followed some years later by an absence of sensory action potentials in the lower limbs, and increased latencies in the somatosensory evoked potentials. Motor nerve conduction velocities were normal, and electromyographic recordings did not show abnormalities. Taken together, these findings are suggestive of a progressive sensory neuronopathy. The patterns of neuromuscular disturbance in AOA2 have not been thoroughly defined; therefore, a sensory neuronopathy should be considered part of the spectrum of neuromuscular manifestations in this disease. Genetic analysis may be of help to diagnose cases with unusual neuromuscular characteristics, like the one presented here.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1878-5883
pubmed:author
pubmed:copyrightInfo
Copyright © 2010. Published by Elsevier B.V.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
298
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
118-20
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Sensory neuronopathy in ataxia with oculomotor apraxia type 2.
pubmed:affiliation
Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain. josegazulla@wanadoo.es
pubmed:publicationType
Journal Article, Case Reports