TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 11781416.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A mutation of the DYT1 gene, which codes for torsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. TorsinA immunohistochemistry was used to examine a case of DYT1, and several cases of non-DYT1, dystonia. No evidence was found for alterations of immunoreactivity at the light microscopic level, specifically neither cytoplasmic aggregations nor colocalization of torsinA immunoreactivity with a marker for endoplasmic reticulum. These findings contrast with results of recent cell culture studies of torsinA.
Medical subject headings
- Brain
- Carrier Proteins
- Dystonic Disorders
- Molecular Chaperones
- Mutation