TorsinA immunoreactivity in brains of patients with DYT1 and non- DYT1 dystonia
- 8 January 2002
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 58 (1) , 120-124
- https://doi.org/10.1212/wnl.58.1.120
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.Keywords
This publication has 9 references indexed in Scilit:
- Severe generalized dystonia due to primary putaminal degeneration: Case report and review of the literatureMovement Disorders, 2002
- Cellular distribution of torsin A and torsin B in normal human brain.Archives of Neurology, 2001
- Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brainBrain Research, 2001
- TorsinA accumulation in Lewy bodies in sporadic Parkinson’s diseaseBrain Research, 2000
- Torsin A and Its Torsion Dystonia-associated Mutant Forms Are Lumenal Glycoproteins That Exhibit Distinct Subcellular LocalizationsJournal of Biological Chemistry, 2000
- Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cellsHuman Molecular Genetics, 2000
- Immunohistochemical localization and distribution of torsinA in normal human and rat brainBrain Research, 2000
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNature Genetics, 1997
- Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34Annals of Neurology, 1990