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No use, distribution or reproduction is permitted which does not comply with these terms. DYT- TOR1A dystonia is a neurological disorder characterized by involuntary muscle contractions and abnormal movements. It is a severe genetic form of dystonia caused by mutations in the TOR1A gene. This recurrent variant results in the deletion of one of two tandem glutamic acid residues i.
Although the mutation is hereditary, not all carriers will develop DYT- TOR1A dystonia, indicating the involvement of other factors in the disease process.
The current understanding of the pathophysiology of DYT- TOR1A dystonia involves multiple factors, including abnormal protein folding, signaling between neurons and glial cells, and dysfunction of the protein quality control system. As there are currently no curative treatments for DYT- TOR1A dystonia, progress in research provides insight into its pathogenesis, leading to potential therapeutic and preventative strategies.
In the s, dystonia was considered a mental illness. As our understanding of these disorders deepened, they are now considered neurological disorders. A milestone in this process was the discovery of the gene TOR1A located on human chromosome 9q34 Ozelius et al. TorsinA protein is involved in a variety of cellular fuctions, including protein folding, lipid metabolism, cytoskeletal organization, and nuclear polarity Ozelius et al.
