Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q

• DOI: 10.1212/wnl.51.3.890
• Publication Date: 2012-05-13T13:35:51Z
• Authors: H. Mori; T. Kondo; M. Yokochi; H. Matsumine; Y. Nakagawa-Hattori; T. Miyake; K. Suda; Y. Mizuno
• Keywords: Locus Ceruleus; Gliosis; Locus coeruleus; Lewy body

We report the results of pathologic and biochemical studies in a patient with 6q-linked autosomal recessive juvenile parkinsonism (AR-JP). Neuronal loss gliosis were restricted to substantia nigra locus ceruleus. No Lewy bodies found, but neurofibrillary tangles argyrophilic astrocytes seen cerebral cortex brainstem nuclei. The later findings, which have not been reported previously AR-JP, suggest heterogeneity AR-JP.