Linked Life Data

8665729

Source:http://linkedlifedata.com/resource/pubmed/id/8665729

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1996-8-7
pubmed:abstractText
Here we present a case of variant GSS disease with mutations in codons 1055 and 129 in a prion protein. The patient was a 54-year-old male, who developed weakness in the lower limbs and spastic, wide-based gait at the age of 46 years. Subsequently he developed dementia and spastic quadriplegia at the age of 49. He had marked pseudobulbar palsy at the age of 50 and became bed-ridden in decorticated posture at teh age of 53. CT and MRI examinations revealed marked atrophy of the frontal and temporal lobes, but the occipital lobes and the cerebellum were spared. His sister had been reported by Amano, et al. in 1992 as a case of variant GSS syndrome, who had very similar clinical features, and had numerous prion protein positive plaques in her cerebral cortex at the time of autopsy. His sister was confirmed to have the same mutations in a prion protein as the present case in later genetic studies.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0009-918X
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
873-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
[A case of variant Gerstmann-Sträussler-Scheinker disease with the mutation of codon P105L].
pubmed:affiliation
Department of Neurology, Nihon University School of Medicine.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports