Objective: To describe the detailed clinical features and pathological findings of a patient with Pallido-nigro-luysian atrophy (PNLA).

Background: PNLA is a rare neurodegenerative disorder with few cases reported to date. Although the clinical picture usually resembles progressive supranuclear palsy (PSP), pathological examination reveals more selective atrophy and loss of neurons in the globus pallidus, substantia nigra and subthalamic nucleus.

Method: Case report with clinico-pathological discussion.

Results: An 83-year-old man presented to our clinic with a vertical supranuclear gaze palsy, parkinsonism, gait impairment and sleep abnormalities suggestive of REM-sleep behavior disorder. He died approximately 1 year after clinic evaluation due to complications of aspiration pneumonia and an autopsy was performed. Neuropathological examination 5 years after symptom onset revealed subcortical tau proteinopathy compatible with a PNLA pattern. There was also an associated mild degree of limbic/subcortical inflammatory response, Alzheimer’s disease-related changes, as well as argyrophilic grain disease.

Conclusion: We present a comprehensive clinico-pathological discussion of a patient with PNLA. Besides parkinsonism and vertical supranuclear gaze palsy, the patient also had a sleep disorder presumably due to RBD, and possibility related to the prominent tau-related pathological involvement of the pontine tegmentum region. Additional studies are needed to further characterize the clinical and pathological characteristics of PNLA and its relationship with PSP.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dream-enactment-behavior-disorder-associated-with-pallido-nigro-luysian-degeneration-and-tau-proteinopathy/