Journal of Movement Disorders

Original Article

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India: Madathum Kuzhiyil Farsana, Vikram V Holla, Prashant Phulpagar, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2026;19(1):19-30. Published online August 19, 2025; DOI: https://doi.org/10.14802/jmd.25132

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Abstract PDF: Objective
Studies outlining the genetic architecture of Parkinson’s disease in India are sparse, and juvenile parkinsonism is underrepresented in the literature. The objective was to study the clinical, therapeutic, and genetic profiles of patients with juvenile parkinsonism and to correlate their phenotypic–genotypic characteristics.
Methods
This retrospective chart review was conducted in patients with suspected genetically mediated juvenile parkinsonism (onset ≤21 years) who underwent genetic testing at a tertiary care center in India from 2015–2024. The available phenotypic–genotypic characteristics were evaluated and compared between Gene (+) and Gene (-) patients.
Results
Forty patients (22 males, 55.0%) with juvenile parkinsonism were included, with mean ages at onset and presentation of 15.85±4.96 years and 26.37±10.11 years, respectively. The mean duration of illness was 10.43±10.49 years. A positive family history was present in 40.0% of the participants, and consanguinity was present in 45%. Bradykinesia was the most common motor symptom (95.0%), and cognitive impairment was the most common nonmotor symptom (17.5%). Pathogenic/likely pathogenic variants were identified in 27 patients (67.5%), with variants in PRKN being the most common (n=8 patients), followed by those in PLA2G6 (n=7 patients). Gene (+) patients had significantly more severe disease with a better levodopa response and more frequent familial consanguinity, oculomotor abnormalities, motor fluctuations, and dyskinesia. Compared with PARK-PRKN patients, PARK-PLA2G6 patients had significantly more dystonia, gaze restriction, and pyramidal signs and more severe disease at presentation, with a lower levodopa equivalent daily dose and fewer motor fluctuations.
Conclusion
More than two-thirds (67.5%) of the juvenile parkinsonism patients in our cohort had an underlying monogenic cause. PARK-PRKN, PARK-PLA2G6, and PARK-SYNJ1 are the common causes of genetically mediated juvenile parkinsonism in India.

Case Report

Cardiac ¹²³I-metaiodobenzylguanidine Scintigraphy in a Patient with Familial Parkinsonism with Parkin Gene Mutation: Young-Do Kim, In-Uk Song, Joong-Seok Kim, Sung-Woo Chung, Kwang-Soo Lee; J Mov Disord. 2010;3(2):42-44.; DOI: https://doi.org/10.14802/jmd.10011

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4 Crossref

A decreased cardiac ¹²³I-metaiodobenzylguanidine (¹²³I-MIBG) uptake has been used as a powerful tool to identify Lewy body disease, such as idiopathic parkinson’s disease (IPD). We performed cardiac ¹²³I-MIBG scintigraphy in patient with autosomal recessive juvenile parkinsonism (ARJP) with parkin gene mutation (PARK2). The findings showed normal cardiac ¹²³I-MIBG uptake. Therefore, although the clinical features of ARJP are sometimes quite similar to those of late-onset IPD, cardiac ¹²³I-MIBG scintigraphy may be used as a valuable tool to identify patients with IPD and to distinguish them from patients with other parkinsonian syndromes.

Citations

Citations to this article as recorded by

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
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BMC Neurology.2023;[Epub] CrossRef
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npj Parkinson's Disease.2021;[Epub] CrossRef
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