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Imaging Familial and Sporadic Neurodegenerative Disorders Associated with Parkinsonism.

ABSTRACT: In this paper, the structural and functional imaging changes associated with sporadic and genetic Parkinson's disease and atypical Parkinsonian variants are reviewed. The role of imaging for supporting diagnosis and detecting subclinical disease is discussed, and the potential use and drawbacks of using imaging biomarkers for monitoring disease progression is debated. Imaging changes associated with nonmotor complications of PD are presented. The similarities and differences in imaging findings in Lewy body dementia, Parkinson's disease dementia, and Alzheimer's disease are discussed.

SUBMITTER: Brooks DJ

PROVIDER: S-EPMC8423977 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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Imaging Familial and Sporadic Neurodegenerative Disorders Associated with Parkinsonism.

Brooks David J DJ

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20210111 2

In this paper, the structural and functional imaging changes associated with sporadic and genetic Parkinson's disease and atypical Parkinsonian variants are reviewed. The role of imaging for supporting diagnosis and detecting subclinical disease is discussed, and the potential use and drawbacks of using imaging biomarkers for monitoring disease progression is debated. Imaging changes associated with nonmotor complications of PD are presented. The similarities and differences in imaging findings ...[more]

PMID: 33432494

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Project description:BackgroundBlood-brain barrier dysfunction is associated with many late-stage neurodegenerative diseases. An emerging question is whether the mutations associated with neurodegenerative diseases can independently lead to blood-brain barrier (BBB) dysfunction. Studies from patient-derived induced pluripotent stem cells suggest that mutations associated with neurodegenerative disease are non-cell autonomous, resulting in gain of toxic function in derived neurons and astrocytes. Here we assess whether selected mutations associated with neurodegenerative diseases can contribute to impairment of the blood-brain barrier.MethodsWe assessed barrier function of confluent monolayers of human brain microvascular endothelial cells (hBMECs) derived from induced pluripotent stem cells (iPSC) from three healthy individuals and eight individuals with neurodegenerative disease. We systematically assessed protein and gene expression of BBB biomarkers, transendothelial resistance (TEER), permeability of Lucifer yellow, permeability of D-glucose, permeability of rhodamine 123, the efflux ratio of rhodamine 123, and P-gp inhibition using Tariquidar for confluent monolayers of human brain microvascular endothelial cell (hBMECs).ResultsWe provide evidence supporting the hypothesis that mutations associated with neurodegenerative disease can independently cause BBB dysfunction. These functional changes are not catastrophic since barrier breakdown would result in BBB impairment during development. Synergistic interactions between non-cell autonomous cerebrovascular dysfunction and the effects of gain-of-toxic function in neurons (e.g. toxic oligomers) are likely to increase disease burden through a positive feedback mechanism.ConclusionsThese results suggest that the accumulation of defects in brain microvascular endothelial cells may ultimately lead to impairment of the BBB. Small changes in barrier function over time could lead to accumulated defects that result in positive feedback to unrelated central nervous system diseases.

Project description:ObjectiveThis study aimed to compare the imaging features of bilateral knees, ankles, and the first metatarsophalangeal joint using high-frequency ultrasonography in male patients with familial and sporadic primary gout and sought to elucidate the relationship between the presence of tophi and various clinical indicators.MethodMale patients with primary gouty arthritis (GA) in the acute phase presenting to the Department of Rheumatology and Immunology at the First Affiliated Hospital of Chengdu Medical College from November 2020 to June 2022 were enrolled and classified into familial and sporadic gout groups. Comparative analyses of their clinical data and ultrasonographic imaging findings of the knees, ankles, and first metatarsophalangeal joints were performed between the groups. Univariate and multivariate logistic regression analyses, as well as receiver operating characteristic (ROC) analysis, were conducted to determine the effectiveness of significant factors in the prediction of tophi.ResultIn comparison to male patients with sporadic gout, those with familial primary gout exhibited lower age, body mass index, disease duration, and serum uric acid (SUA) levels. However, they demonstrated higher incidences of tophi and bone erosion (54.6% in familial gout vs. 35.1% in sporadic gout, p < 0.05; 71.2% in familial gout vs. 48.1% in sporadic gout, p < 0.05, respectively), with a greater prevalence of tophi in the right first metatarsophalangeal joint (44.2% in familial gout vs. 32.3% in sporadic gout, p < 0.05). Independent risk factors for tophi included family history (OR = 6.712), age (OR = 1.049), disease duration (OR = 1.134), and SUA levels (OR = 1.006). ROC analysis yielded an area under the curve of 0.883 (p < 0.05) for predicting joint tophi using these factors.ConclusionMale patients with familial primary GA in the acute phase experienced earlier onset, shorter disease duration compared to those with sporadic gout. They also had more affected joints, more frequent and a wider distribution of tophi, especially in the right first metatarsophalangeal joint. Family history, age, disease duration, and SUA levels are predictive of tophi formation.

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Dataset Information

Imaging Familial and Sporadic Neurodegenerative Disorders Associated with Parkinsonism.

Publications

Imaging Familial and Sporadic Neurodegenerative Disorders Associated with Parkinsonism.

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