Juvenile Parkinson's disease: Symptom burden and treatment challenges

Abstract

Juvenile Parkinson's disease (JPD) is a rare condition characterized by the onset of parkinsonian motor symptoms before the age of 21. Sixteen patients with JPD who presented to the Mayo Clinic between 1990-2020 were included. The median age of symptoms onset was 18.5 years, and six cases had pathogenic PRKN mutations. Resting tremor was the most frequent initial symptom (81.3%), and non-motor symptoms were notably common, including mild cognitive impairment (56.3%), anxiety (62.5%), and depression (56.3%). Levodopa responsiveness was suboptimal in 9 patients and 14 exhibited motor fluctuations. JPD demonstrates distinct clinical characteristics compared with early-onset and late-onset PD. Plain language summary A study of 16 patients who developed juvenile Parkinson's disease, analyzing symptoms, genetic causes, and treatment response Juvenile Parkinson's disease (JPD) is a rare condition with Parkinson's disease-like symptoms occurring in young people. We reviewed all patients diagnosed with Parkinson's disease at the Mayo Clinic between 1990 and 2020 and focused on those whose symptoms began before age 21, gathering information from their medical records about their symptoms, family history, genetic tests, and treatments. We identified 16 patients. A total of 63% had family members with Parkinson's disease, and half carried a genetic mutation linked to the disease. Most began showing symptoms around age 18, and the most common first sign was a resting tremor. Beyond movement, many also had memory or thinking difficulties (63%), anxiety (63%), and depression (56%). All received standard Parkinson's medications, which helped at first but became less effective over time, and many developed treatment-related abnormal movements. Four patients underwent a surgical procedure called deep brain stimulation, which helped control their symptoms. Juvenile Parkinson's disease has distinct genetic and clinical features and requires early recognition, genetic testing, and care tailored to each person.