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

H Mori, T Kondo, M Yokochi, H Matsumine… - Neurology, 1998 - AAN Enterprises
H Mori, T Kondo, M Yokochi, H Matsumine, Y Nakagawa-Hattori, T Miyake, K Suda…
Neurology, 1998AAN Enterprises
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.
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.
American Academy of Neurology