Spinocerebellar ataxia type 2: Progression before diagnosis

摘要

There has been an increase in awareness that unperceived brain degeneration can precede clinical symptoms of neurodegenerative disease by several years.1-2 Many researchers believe that previous scarcity in knowledge of this process is a major reason why trials of disease-modifying treatments in patients with neurodegenerative diseases were often negative. Consequently, research into clinical neurodegeneration has changed focus towards studies of early or even preclinical disease stages, which are hoped to provide a time window for more effective therapeutic intervention. Healthy carriers of gene mutations that cause dominantly inherited, fully penetrant neurodegenerative diseases offer unique opportunities forthese studies.