title: Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.
abstract: We report the results of pathologic and biochemical studies in a patient with 6q-linked autosomal recessive juvenile parkinsonism (AR-JP). Neuronal loss and gliosis were restricted to the substantia nigra and the locus ceruleus. No Lewy bodies were found, but neurofibrillary tangles and argyrophilic astrocytes were seen in the cerebral cortex and brainstem nuclei. The later findings, which have not been reported previously in AR-JP, suggest the pathologic heterogeneity of 6q-linked AR-JP.
authors.affiliation: Department of Neurology, School of Medicine, Juntendo University, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Mori
authors.forename: T
authors.initials: T
authors.lastname: Kondo
authors.forename: M
authors.initials: M
authors.lastname: Yokochi
authors.forename: H
authors.initials: H
authors.lastname: Matsumine
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagawa-Hattori
authors.forename: T
authors.initials: T
authors.lastname: Miyake
authors.forename: K
authors.initials: K
authors.lastname: Suda
authors.forename: Y
authors.initials: Y
authors.lastname: Mizuno
mesh_terms: D001921:Brain / Q000201:enzymology / Q000473:pathology*; D002896:Chromosomes, Human, Pair 6; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D013378:Substantia Nigra / Q000473:pathology; D014446:Tyrosine 3-Monooxygenase / Q000378:metabolism
chemical_list: D014446:Tyrosine 3-Monooxygenase