How does the DYT1 dystonia torsin A mutation affect neuronal development? KU Leuven
Dystonia is the third most common movement disorder with a prevalence of 48.5 cases per 100000. Despite improvements in the treatment of dystonic symptoms, the disease remains incurable and its aetiology is poorly defined. The first dystonia gene was identified in 1997 when heterozygosity for a three base-pair mutation in TOR1A/torsinA was uncovered as the cause of juvenile-onset DYT1/DYT-TOR1A dystonia. Recently, TOR1A ...