Figure 1.

Patientʼs [¹⁸F]DOPA-PET imaging and her pedigree. A: [¹⁸F]DOPAPET of our patient (III-1) showing decreased [¹⁸F]DOPA uptake in the right caudate and putamen, indicating a degenerative etiology. B: Pedigree showing two additional individuals with the same pathogenic heterozygous GCH1 variant (R184C): the patient (arrow), her 73-year-old mother (II-2) who complained of slowing gait beginning one year ago, and her 60-year-old uncle (II-5) who has a history of alcoholism and has had ataxia for two years. Individual II-4 died from perinatal pneumonia. Diagnosed with Parkinsonism at 80 years old, her grandfather (I-1) had received levodopa for two years before dying of aspiration pneumonia. None of the family members had dystonia. [¹⁸F]DOPA-PET: 18F-dihydroxyphenylalanine positron emission tomography.