Genetic Movement Disorders Commonly Seen in Asians.

Area of Science:

• Neurology
• Genetics
• Population Health

Background:

• Molecular genetic testing advancements accelerate gene discovery and expand known genetic disease phenotypes.
• Ethnic variations exist in the prevalence and presentation of genetic movement disorders.
• Population-specific genetics and risk factors necessitate tailored diagnostic and therapeutic approaches.

Purpose of the Study:

• To review common genetic movement disorders prevalent in Asian populations.
• To highlight disorders with specific mutations or presentations frequent in Asians.
• To emphasize the role of ethnicity in diagnosing and managing genetic movement disorders.

Main Methods:

• Literature review of genetic movement disorders.
• Focus on conditions commonly seen in Asia, including Wilson's disease, specific spinocerebellar ataxias (SCAs), Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia.
• Inclusion of globally common disorders with frequent Asian-specific mutations or presentations.

Main Results:

• Identified key genetic movement disorders prevalent in Asia, such as Wilson's disease and various SCAs.
• Detailed specific genetic mutations and unique clinical presentations observed in Asian populations for certain disorders.
• Confirmed that genetic factors and disease characteristics can differ significantly across ethnic groups.

Conclusions:

• Recognizing ethnic origins is crucial for accurate diagnosis of genetic movement disorders.
• Population-specific genetic data can guide personalized medicine strategies for movement disorders.
• Further research into ethnic variations in genetic movement disorders is warranted.