Linked Life Data

17101456

Source:http://linkedlifedata.com/resource/pubmed/id/17101456

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-11-14
pubmed:databankReference
pubmed:abstractText
Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1). Four pathogenic mutations in FTL1 have been described to date; 460insA was our original founder mutation in Cumbria, North West England, where it arose before 1800. The same mutation appears to have arisen separately in France. The resulting altered reading frame extends the peptide, disrupting the ferritin dodecahedron structure and causing accumulation of ferritin and iron, primarily in central neurons. A wide range of neurologic symptoms may occur; 50% present with chorea, 43% with limb dystonia, and 7% with Parkinsonian features. The disorder provides a direct link between disordered iron storage and a neurodegenerative disease, opening new avenues for treatment by altering brain iron stores in addition to symptomatic treatments such as local Botulinum toxin and oral anti oxidants.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1071-9091
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
176-81
pubmed:dateRevised
2007-8-13
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Neuroferritinopathy.
pubmed:affiliation
Institute of Human Genetics, Newcastle University, Newcastle on Tyne, UK. John.burn@newcastle.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't