Clinicopathological review of pallidonigroluysian atrophy

Pallidonigroluysian atrophy is a rare neurodegenerative disease characterized by degeneration of the globus pallidus, substantia nigra, and subthalamic nucleus. Few studies have comprehensively documented the clinical and pathological features of pallidonigroluysian atrophy. A systematic review of all published cases of pallidonigroluysian atrophy in English since 1970 was performed. We also report a new case of pallidonigroluysian atrophy. Twenty-five cases of pathologically proven pallidonigroluysian atrophy were reviewed, 24 from the literature and 1 of our own. Average age of onset was 54.3 ± 14.3 years, and average duration of disease was 7.9 ± 5.8 years. The most common first symptom was gait or balance disturbance. Patients had a diversity of movement disorders, including chorea in 5 cases (20%). Nine cases (36%) had coexistent motor neuron disease. Almost all cases had gliosis, and many cases had iron-positive pigments in the pallidonigroluysian system. Tauopathy was absent to rare in this region. Widespread tau-negative, p62-positive glial inclusions, described in 1 previous case, were also present in our patient. As pallidonigroluysian atrophy has a diversity of clinical presentations, it is best defined neuropathologically. The relative lack of tauopathy and the presence of p62-positive glial inclusions or iron-positive pigments in the pallidonigroluysian region may help to distinguish pallidonigroluysian atrophy from similar disease entities.