Pure cerebellar ataxia in a Korean patient with a novel PRKCG mutation

Key Points

• Pure cerebellar ataxia arises from a novel PRKCG mutation in the presented patient, illustrating a unique genetic connection.
• The patient exhibited symptoms consistent with known neurological disorders tied to genetic mutations that affect coordination.
• A genetic analysis was conducted to identify the PRKCG mutation, affirming its role in the patient's condition.
• This connection highlights the need for further exploration into similar mutations and their impact on neurological health.