To describe the frequency of motor and non-motor symptoms, family history, genetic mutations and treatment in a clinical cohort of 18 patients with Juvenile Parkinson Disease (JPD).

JPD is defined by an onset of Parkinson (PD) before the age of 21 years.

Patients with PD who presented to the Mayo Clinic from 1990 to 2022 were screened for inclusion. PD patients with a motor symptom onset before the age of 21 years were selected. We collected data on motor and non-motor symptoms, as well as genetics, imaging, medication and deep brain stimulation (DBS).

Eighteen JPD patients (7 males and 11 females) were included. The median age at motor onset was 18.8 years. Rest tremor occurred in 88.9%, bradykinesia in 88.9%, rigidity in 83.3% and impaired postural reflexes in 27.8% of patients.  The first motor symptom at onset was tremor for 83.3% patients, while dyskinesia occurred in 66.7% patients.

Reported non-motor symptoms were constipation (38.9%), urinary urgency (27.8%), sweat dysfunction (11.1%), orthostatic hypotension (27.8%), anosmia (5.6
%), sleep disorder (55.6%), cognitive impairment (55.6%), depression (72.2%), anxiety (55.6%), impulse control disorder (38.9%) and psychosis (16.7%).

Family history of PD was positive for 10 patients (55.6%). Genetic testing was done in 13 patients (72.2%), of which 8 were positive (6 for PRKN, 1 with mutations on POLG and TENM4, 1 with a SPG7 mutation). Four out of 6 DATscans were positive and 2 out of 4 PETscans were abnormal.

Levodopa and dopamine agonists were tried in 17 (94.4%) and 11 (61.1%) patients respectively. DBS was performed on 4 patients (22.2%).

In cohort of 18 JPD patients, tremor was the first motor symptom for the majority of patients. Family history of PD was positive for half of our cohort and a third harbored a PRKN mutation.