Linked Life Data

20873469

Source:http://linkedlifedata.com/resource/pubmed/id/20873469

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3 Suppl 2
pubmed:dateCreated
2010-9-29
pubmed:abstractText
Myoclonic epilepsy of Lafora (EPM2) is a severe autosomal recessive disorder. The onset in adolescence, generalized seizures, severe myoclonus, dementia and a rapid malignant course with death in 4-8 years after the onset are characteristic features of EPM2. The disease has a specific pathological feature, intracellular polyglucosan inclusions (Lafora bodies) in the brain, liver, skin and muscles. Two genetic forms are known, one of which (EPM2A) is caused by mutations in the laforin gene and another (EPM2B)--by mutations in the malin gene. We report a case of EPM2A in a 17-year-old girl of mixed Russian-Ukrainian ethnicity. The disease lasted for almost four years by the time of the examination but the girl still had no dementia. A previously described laforin mutation Tyr86Stop in the homozygous state was detected and Lafora bodies were found in the skin and muscles. Various anticonvulsants produced no effect or a slight and unstable effect. In the following several months, the disease progressed quickly, the girl became severely disabled and demented and died in 19 years old, 5.5 years after the disease onset. This is a first Russian case confirmed by DNA testing.
pubmed:language
rus
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1997-7298
pubmed:author
pubmed:issnType
Print
pubmed:volume
110
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
11-6
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Myoclonic epilepsy of Lafora: a case report].
pubmed:publicationType
Journal Article, English Abstract, Case Reports