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.
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LBs are usually absent in autosomal recessive early-onset Parkinsonism caused by Parkin mutations.
“consistent with the fact that LBs are usually absent in autosomal recessive early-onset Parkinsonism caused by Parkin mutations27.”
From Loss of autophagy in dopaminergic neurons causes Lewy pathology and motor dysfunction in aged mice (2018) · cites this paper as [27]
Parkin-mediated p62 clustering may be a key process of LB formation.
“Thus, Parkin-mediated p62 clustering may be a key process of LB formation, consistent with the fact that LBs are usually absent in autosomal recessive early-onset Parkinsonism caused by Parkin mutations27.”
From Loss of autophagy in dopaminergic neurons causes Lewy pathology and motor dysfunction in aged mice (2018) · cites this paper as [27]
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References 11 · Cited by 370
- Authors
- Mori, H., Kondo, T., Yokochi, M., Matsumine, H., Nakagawa-Hattori, Y., Miyake, T., Suda, K., & Mizuno, Y.
- Affiliations
- Juntendo University (JP)
- Venue
- Neurology
- Published
- 1998-09
- Volume
- 51
- Issue
- 3
- Pages
- 890-892
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1988457275
- Cited by
- 370
- References
- 11
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 9 · 2023: 3 · 2022: 4 · 2021: 9 · 2020: 8 · 2019: 8 · 2018: 11 · 2017: 5 · 2016: 4 · 2015: 4 · 2014: 7 · 2013: 13 · 2012: 8
- FWCI
- 11.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Nuclear Receptors and Signaling
- Keywords
- juvenile parkinsonism, chromosome 6q, autosomal recessive juvenile parkinsonism, substantia nigra, locus coeruleus, neuronal loss, gliosis, neurofibrillary tangles, Lewy bodies, biochemical studies
- MeSH terms
- Brain, Chromosomes, Human, Pair 6, Female, Humans, Male, Middle Aged, Parkinson Disease, Substantia Nigra, Tyrosine 3-Monooxygenase, Fatal Outcome
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