Objective: to present a rare case of patient with childhood-onset spastic paraparesis who developed early-onset Parkinson’s disease.

Background: Approximately 21% of HSP patients develop parkinsonism, suggesting the possibility that central dopaminergic degenerations contributes to the HSP phenotype. Genetic confirmation is lacking in 51–71% of clinically suspected HSP cases, highlighting the diagnostic limitations of current genetic testing. Parkinsonism in HSP remains rare, and literature describing this overlap phenotype is limited

Method: We report a 42-year-old male with negative family history who, at 11 years of age, developed spastic paraparesis. Symptoms began in the right lower limb and later affected the left, leading to progressive gait impairment; by 18 years, he could ambulate only with a walker. At 42 years, he developed a static tremor i rigidity affecting the right hand. Oral levodopa therapy was started, but after three years, due to motor fluctuations and dyskinesias, treatment was switched to continuous subcutaneous foslevodopa/foscarbidopa infusion via pump, resulting in clinical benefit. Cognitive and psychiatric functions remained preserved

Results: Brain and spinal MRI revealed no structural abnormalities. Brain SPECT demonstrated diffuse cortical hypoperfusion without focal defects. DaTSCAN showed absent visualization of both putamina and decreased tracer uptake in the left caudatus. Clinical exome sequencing did not identify pathogenic variants

Conclusion: This case illustrates childhood-onset spastic paraparesis followed decades later by early-onset parkinsonism, supporting basal ganglia involvement in genetically unresolved complicated HSP. These observations underscore the need to define a novel clinical entity, such as a “parkinsonian-pyramidal syndrome,” in patients presenting with overlapping HSP and parkinsonism

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MDS Abstracts - https://www.mdsabstracts.org/abstract/childhood-onset-spastic-paraparesis-followed-by-early-onset-parkinsonism-a-genetically-unresolved-case-of-complicated-hereditary-spastic-paraplegia/