Marked dopaminergic denervation in early stages of Perry syndrome

Perry Syndrome (PS) is a rare autosomal dominant disease caused by mutations in the DCTN1 gene. Clinically it is characterized by a combination of parkinsonism, neuropsychiatric symptoms, weight loss, and central hypoventilation. PS patients exhibit a variable response to dopaminergic medications. Dopaminergic imaging in these patients is rarely reported, but signs of presynaptic dopaminergic deficit are expected. We report a 43-year-old male with genetically confirmed PS who presented with early parkinsonism and relatively preserved response to levodopa, and before developing respiratory problems and weight loss. Ioflupane I-123 SPECT (DaTSCAN) repeatedly demonstrated nearly complete absence of striatal tracer uptake, a severity not previously described in early stages of the disease. This finding suggests that marked dopaminergic denervation may be present at an early clinical stage of Perry syndrome, even in patients who respond to levodopa. Whether this reflects dopaminergic involvement preceding more widespread neurodegeneration in the globus pallidus cannot be determined from a single case, and this possibility needs to be confirmed in larger studies.