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Article
Open AccessParkinson’s disease with a typical clinical course of 17 years overlapped by Creutzfeldt–Jakob disease: an autopsy case report
Late-stage Parkinson’s disease (PD) often presents with neuropsychiatric symptoms such as dementia, psychosis, excessive daytime sleepiness, apathy, depression, and anxiety. However, neuropsychiatric symptoms ...
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Article
Can synucleinopathy and tauopathy be identified during life?
Data on the incidence of synucleinopathies and tauopathies are limited, and a recently published study has attempted to address this deficit. Confirmation of these proteinopathies currently relies on pathologi...
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Article
Open AccessAcute urinary retention in a 23-year-old woman with mild encephalopathy with a reversible splenial lesion: a case report
Patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion present with relatively mild central nervous system disturbances. Although the exact etiology of the condition remain...
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Article
LRRK2 P755L variant in sporadic Parkinson’s disease
Parkinson’s disease (PD) is a neurodegenerative disorder of unknown etiology with probable involvement of genetic-environmental factors. The majority of PD cases (approximately 90–95%) are sporadic, while fami...
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Article
Up-regulation of hMUTYH, a DNA repair enzyme, in the mitochondria of substantia nigra in Parkinson’s disease
There is ample evidence for the involvement of oxidative stress in mitochondrial DNA damage and repair mechanisms in Parkinson’s disease (PD). The human MutY homolog (hMUTYH) which removes misincorporated aden...
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Article
Expression of 8-oxoguanine DNA glycosylase (OGG1) in Parkinson’s disease and related neurodegenerative disorders
Oxidative stress including DNA oxidation is implicated in Parkinson’s disease (PD). We postulated that DNA repair enzymes such as 8-oxoguanosine DNA glycosylase (OGG1) are involved in the PD process. We perfor...
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Chapter
Etiology, Pathogenesis, and Genetics of Parkinson’s Disease
Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease. Recent scientific interest has been focused on the molecular mechanism of nigral neuronal death and how t...
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Chapter
Ubiquitin-Proteasome Pathway is a Key to Understanding of Nigral Degeneration in Autosomal Recessive Juvenile Parkinson’s Disease
In most patients with Parkinson’s disease (PD), the contribution of genetic and environmental factors remains to be elucidated. The importance of genes in PD was controversial for many years. It has become cle...
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Article
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
Autosomal recessive juvenile parkinsonism (AR–JP), one of the most common familial forms of Parkinson disease, is characterized by selective dopaminergic neural cell death and the absence of the Lewy body, a c...