Objective: To describe a retrospective cohort of sixteen patients diagnosed with Juvenile Parkinson Disease and better define their family history, genetic profile, clinical progression, and treatment response.

Background: Juvenile Parkinson Disease is a rare condition characterized by the onset of parkinsonian motor symptoms before the age of 21 years.

Method: All patients diagnosed with PD who presented to the Mayo Clinic from 1990 to 2024 were screened. Cases with motor symptom onset before age 21 were included. Data on motor and non-motor symptoms, genetics, imaging and medication response were collected through medical records review. Clinical features were analyzed and compared with those of previously reported EOPD cohorts.

Results: Sixteen patients met the inclusion criteria. Ten (62.50%) had a positive family history, and eight (50.00%) carried at least one PD-related genetic mutation, most commonly in PRKN, GBA, POLG, and TENM4 [Table 1]. The median age of motor symptom onset was 18.5 years, with rest tremor as the most common initial symptom (81.25%). All cases exhibited significant non-motor symptoms, such as cognitive impairment (62.50%), anxiety (62.50%), and depression (56.25%) [Table 2]. All patients were treated with dopaminergic therapy and showed an initial positive response. However, significant motor fluctuations were observed in fourteen of them (87.50%), leading to treatment adjustment challenges. Consequently, three patients underwent deep brain stimulation. In comparison, reported EOPD cohorts exhibited cognitive impairment in 29.03%, anxiety in 42.74%, depression in 36.29%, and motor fluctuations in 41.00% of cases [1-3].

Conclusion: Juvenile Parkinson disease demonstrates distinct genetic, clinical, pathophysiological, and treatment characteristics and represents a markedly separate clinical entity compared to EOPD and LOPD.

Table 1

Table 2

References: [1] Camerucci E, Mullan AF, Turcano P, Bower J, Piat C, Ahlskog JE, Savica R. 40-Year Incidence of Early-Onset Parkinson’s Disease in Southeast Minnesota. J Parkinsons Dis. 2023; 13(6): 893-898.
[2] Patwardhan A, Kamble N, Bhattacharya A, Holla V, Yadav R, Pal PK. Impact of Non-Motor Symptoms on Quality of Life in Patients with Early-Onset Parkinson’s Disease. Can J Neurol Sci. 2024 Sep; 51(5): 650-659.
[3] De Carolis L, Galli S, Bianchini E, Rinaldi D, Raju M, Caliò B, Alborghetti M, Pontieri FE. Age at Onset Influences Progression of Motor and Non-Motor Symptoms during the Early Stage of Parkinson’s Disease: A Monocentric Retrospective Study. Brain Sci. 2023 Jan 17; 13(2): 157.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-features-of-juvenile-parkinson-disease-a-comparative-study-with-early-onset-parkinson-disease/