Work

Marked dopaminergic denervation in early stages of Perry syndrome

Year: 2026

Type: article

Abstract: 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.

Source: BMC Neurology

DOI: 10.1186/s12883-026-05333-2

Authors: Eric Roddy, Erik Gentry, Victoria N Holiday, Peter Hedera

Institution: University of Louisville

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090