Recent reports have proven the importance of genetic factors and inflammation in the pathogenesis of sporadic Parkinson's disease (PD). In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously associated with Crohn's disease--a common inflammatory bowel disease, have been examined in a group of 308 sporadic PD patients and 220 healthy controls. Significantly higher frequency of total CARD15 variant alleles in PD patients (13.0%) compared to the controls (8.0%, p<0.02) was observed. 24.0% of PD patients carried at least one CARD15 variant allele compared to 15.5% of healthy controls (p<0.02, OR=1.73). The results of the study suggest, that the polymorphism in CARD15/NOD2 gene may be a risk factor for sporadic PD development, and support the concept of inflammatory pathogenesis of PD.
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http://dx.doi.org/10.1016/j.neures.2006.11.012 | DOI Listing |
Alzheimers Dement
December 2024
Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
Background: Lewy body pathology (LBP) is common in autosomal dominant (ADAD) or sporadic Alzheimer disease (sAD). LBP seems to be the most frequent co-pathology in sAD and even in the relatively young ADAD population, where other co-pathologies are rare. Knowledge of neuropathological distribution patterns of LBP and associated survival and genetic characteristics in both AD variants is incomplete.
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December 2024
Emory University School of Medicine, Atlanta, GA, USA.
Background: The extracellular amyloid plaques, one of the pathological hallmarks of Alzheimers Disease (AD), are frequently also observed in the cortex of cognitively unimpaired subjects or as co-pathology in other neurodegenerative diseases. Progressive deposition of fibrillar amyloid-β (Aβ) as amyloid plaques for two decades prior disease onset leads to extensive isomerization of Aβ N-terminus. Quantifying the extent of isomerized Aβ can be provide insight into the different stages of amyloidosis in the brain.
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December 2024
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: The accumulation of abnormal tau protein in neurons and glia in the human brain is the defining feature of neurodegenerative diseases known as tauopathies. Progressive supranuclear palsy (PSP), the most common primary tauopathy, is typified by selective vulnerability of dopaminergic neurons and glia in the midbrain leading to an atypical parkinsonian movement disorder. To investigate candidate disease mechanisms underlying PSP, there is a critical need for model systems that more accurately recapitulate the cellular and molecular environment in the human brain.
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December 2024
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: Progressive supranuclear palsy (PSP) is the most common primary tauopathy, with a constellation of pathological features including 4R-tau positive neurofibrillary tangles and tufted astrocytes. Most PSP cases are sporadic and associated with common structural variation in the 17q21.31 MAPT locus as well as other loci, including EIF2AK3 which is critical for the integrated stress response (ISR).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Memory & Aging Center, Department of Neurology, University of California in San Francisco, San Francisco, CA, USA.
Background: Lewy body disease (LBD) often co-occurs with Alzheimer's (AD), resulting in more significant cognitive decline than AD or LBD alone. LBD's hallmarks, asyn-positive Lewy bodies and neurites, propagate from the enteric system or olfactory bulb to the amygdala, which acts as a gatekeeper for spread to other structures. Initially, LBD appears in the central or cortical nuclei, reflecting brainstem or olfactory origins.
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