Dream Enactment Behavior Disorder Associated with Pallido‐Nigro‐Luysian Degeneration and Tau Proteinopathy

Abstract

BackgroundBackground: Pallido-nigro-luysian atrophy (PNLA) is a rare neurodegenerative disorder with only a few cases reported to date. Although the clinical picture usually resembles progressive supranuclear palsy, pathological examination reveals more selective atrophy and loss of neurons in the globus pallidus, substantia nigra and subthalamic nucleus. Objectives Objectives: To describe the clinical features and pathological findings of a patient with PNLA. Methods Methods: Case report with clinico-pathological discussion. ResultsResults: 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. 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. Conclusions Conclusions: 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, clinically suggestive of REM behavioral disorder, which has not been previously reported in PNLA. We expand the clinical phenotype of this rare condition and provide neuropathological evidence for the associated abnormalities.Pallido-nigro-luysian atrophy (PNLA) is a rare neurodegenerative disorder characterized by selective atrophy and loss of neurons in the globus pallidus, substantia nigra and subthalamic nucleus. 1 To date, very few cases have characterized the clinical spectrum of this condition, which may affect up to 2% of all patients with an ante-mortem diagnosis of progressive supranuclear palsy (PSP). 2 Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia defined by dream-enactment behaviors during REM sleep. Although RBD can occur in a variety of neurological conditions, it is strongly linked to neurodegenerative diseases associated with α-synuclein pathology (ie α-synucleinopathies), such as Parkinson's disease (PD), dementia with Lewy bodies, and multiple system atrophy. 3 Clinical CaseAn 83-year-old man with a history of hypertension, dyslipidemia, osteoarthritis and chronic back pain presented to our Movement Disorders Clinic for evaluation of gait imbalance. His initial symptoms started around 4 years earlier, shortly after a bilateral hip replacement surgery. At the time, he developed progressive unsteadiness and frequent falls with a 3-year history of slowness of movements and rest tremors. For 1-2 years he had also demonstrated dream enactment motor activity during sleep, associated with excessive kicking and slapping. Visual hallucinations and fluctuation of cognitive functions were not reported. More recently he developed dysphagia with occasional choking

The Rossy Progressive Supranuclear Palsy Centre: Creation and Initial Experience

“…In addition to detailed written neuropathology reports, computer-based data collection comprises a detailed diagnostic sheet and an extensive evaluation sheet to document various pathologies including immunoreactivities using immunostaining for neurodegenerative disease-related proteins, the latter used to generate heat maps of pathologies. 13,14 Establishment of postmortem MRI imaging has also been organized. Our approach to brain sampling and evaluation will be reported in a separate paper.…”