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The pathology is characterized by selective nigrostriatal dopaminergic degeneration, most conspicuous in the ventrolateral tier neurons of the substantia nigra pars compacta, reflecting the loss of neuromelanin and iron accumulation.
While 85-90% of cases are sporadic, 10-15% have positive family history with rare familial forms caused by genetic mutations such as LRRK2, and juvenile-onset forms may occur without Lewy bodies when PARK2 mutations impair Parkin function.
Non-motor features such as constipation, anosmia, REM sleep behavior disorder, and anxiety often precede cardinal motor features, making them important early diagnostic clues.
The swallow tail sign on T2*/SWI MRI is the most promising imaging biomarker for diagnosis, with over 90% diagnostic accuracy, making it particularly useful for confirming suspected disease and ruling out secondary parkinsonism.
DaTscan provides high sensitivity for assessment of presynaptic dopaminergic deficits and aids differentiation between primary Parkinson disease and atypical parkinsonian syndromes based on characteristic striatal uptake patterns.
When reporting suspected Parkinson disease on MRI, specifically comment on the presence or absence of the swallow tail sign on axial T2*/SWI sequences, noting that loss of this sign strongly supports the diagnosis; additionally describe the iron content appearance and signal intensity changes in the substantia nigra to avoid confusion with secondary causes of parkinsonism.