Objective: To present a patient with juvenile parkinsonism initially presented with billateral foot dystonia and inreased deep tendon reflexes.

Background: Patients with juvenile parkinsonism may display widespread clinical spectrum, and can be masquerading as childhood-foot dystonia or hereditary spastic paraplegia (HSP).

Method: Our patient was diagnosed as having HSP at age of 11, when he noted difficulty in walking and stifness in both legs. At age 42, he noted bilateral bradykinesia, rigidity and mild right-sided tremor The cranial and spine MRI were normal. Eelectromyoneurography revealed normal findings. On the DaTSCAN, the visualization of both putamen was absent and the left caudate was paler. The whole-exome sequencing (LG235) and the next-generation sequencing-based parkinsonism, dystonia, hereditary spastic paraplegia (HSP) gene did not identified pathogenic mutations.

Results: Genetic confirmation lacking, but clinical presentation with symetrical dopaminergic denervation and the early onset levodopa-induced led to the diagnosis of juvenile parkinsonism. The pedigree structure is consistent with an autosomal recessive homozygosity mode.

Conclusion: Juvenile parkinsonism might be a distinct clinical and genetic entity. A negative result does not rule out a genetic cause of the disease, given that the causative mutation may be in a part of the gene that is not covered by our testing, in a gene that is not part of this panel, or in a so far mutations in unidentified genes involved in the disease. Analysis of additional individuals with early-onset parkinsonism lacking Parkin mutations will reveal the importance of this case with early-onset parkinsonism.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/juvenile-parkinsonism-masquerading-as-hereditary-spastic-paraplegia/