Early Onset Degenerative Parkinsonism – Consider SPG7 Mutation

A 43-year-old man presented with ataxia and stiffness of lower limbs for approximately last 10 years. The clinical examination revealed bilateral parkinsonism The magnetic resonance imaging of the brain and spine showed no structural abnormality to explain his symptoms. However, the dopamine transporter scan showed abnormal tracer uptake in both basal ganglia, suggestive of degenerative parkinsonism. The next generation sequencing of spastic paraparesis gene panel revealed probably pathogenic novel mutation in the SPG7 gene. Though the exact mechanism of parkinsonism in SPG 7 mutation is unclear, mitochondrial dysfunction and oxidative stress seem to play a key role. SPG7 mutation should be considered as a cause of early onset degenerative parkinsonism when no alternative explanation can be found.