Journal ArticleClin Epigenetics · April 25, 2024
Alzheimer's disease (AD) prevalence is twice as high in non-Hispanic Blacks (NHBs) as in non-Hispanic Whites (NHWs). The objective of this study was to determine whether aberrant methylation at imprint control regions (ICRs) is associated with AD. Differen ...
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Journal ArticleJAMA · April 16, 2024
IMPORTANCE: Finding a reliable diagnostic biomarker for the disorders collectively known as synucleinopathies (Parkinson disease [PD], dementia with Lewy bodies [DLB], multiple system atrophy [MSA], and pure autonomic failure [PAF]) is an urgent unmet need ...
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Journal ArticleHeliyon · February 15, 2024
BACKGROUND: Poor birth outcomes such as preterm birth/delivery disproportionately affect African Americans compared to White individuals. Reasons for this disparity are likely multifactorial, and include prenatal psychosocial stressors, and attendant incre ...
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Journal ArticleOphthalmic Surg Lasers Imaging Retina · February 2024
OBJECTIVE: This study aimed to identify peripapillary microvascular changes in Alzheimer's disease (AD) and mild cognitive impairment (MCI). PATIENTS AND METHODS: In this prospective study, 66 eyes of 36 subjects with AD, 119 eyes of 63 with MCI, and 513 e ...
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Journal ArticleOphthalmol Sci · 2024
PURPOSE: To develop a machine learning tool capable of differentiating eyes of subjects with normal cognition from those with mild cognitive impairment (MCI) using OCT and OCT angiography (OCTA). DESIGN: Evaluation of a diagnostic technology. PARTICIPANTS: ...
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Journal ArticleOphthalmol Sci · June 2023
PURPOSE: To assess the intrasession repeatability of macular OCT angiography (OCTA) parameters in Alzheimer's disease (AD), mild cognitive impairment (MCI), Parkinson's disease (PD), and normal cognition (NC). DESIGN: Cross sectional study. SUBJECTS: Patie ...
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Journal ArticleTransl Vis Sci Technol · January 3, 2023
PURPOSE: Retinal microvascular abnormalities measured on retinal images are a potential source of prognostic biomarkers of vascular changes in the neurodegenerating brain. We assessed the presence of these abnormalities in Alzheimer's dementia and mild cog ...
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Journal ArticleFront Mol Neurosci · 2023
Alzheimer's disease (AD) is characterized by a long preclinical phase. Although late-stage AD/dementia may be robustly differentiated from cognitively normal individuals by means of a clinical evaluation, PET imaging, and established biofluid biomarkers, d ...
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Journal ArticleEpigenetics · December 2022
Imprinted genes - critical for growth, metabolism, and neuronal function - are expressed from one parental allele. Parent-of-origin-dependent CpG methylation regulates this expression at imprint control regions (ICRs). Since ICRs are established before tis ...
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Journal ArticleAlzheimer's and Dementia · December 1, 2022
Background: The Montreal Cognitive Assessment (MoCA) is a commonly used screening tool for the diagnosis of neurocognitive disorders such as mild cognitive impairment (MCI) and Alzheimer’s Disease (AD). The current cut-off threshold for detection of MCI on ...
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Journal ArticleRetina · July 1, 2022
PURPOSE: To assess retinal microvascular alterations in individuals with amnestic mild cognitive impairment (MCI) and nonamnestic MCI. METHODS: One hundred twelve eyes of 59 amnestic MCI participants, 32 eyes of 17 nonamnestic MCI participants, and 111 eye ...
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Journal ArticleActa Neuropathol Commun · March 3, 2022
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by mutations in the TSC1 and TSC2 genes and autosomal dominantly inherited. These mutations cause hyperactivation of the mammalian Target of Rapamycin (mTOR) pathway, leading to the d ...
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Journal ArticleBr J Ophthalmol · March 2022
BACKGROUND/AIMS: To develop a convolutional neural network (CNN) to detect symptomatic Alzheimer's disease (AD) using a combination of multimodal retinal images and patient data. METHODS: Colour maps of ganglion cell-inner plexiform layer (GC-IPL) thicknes ...
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Journal ArticleOphthalmol Sci · March 2022
PURPOSE: To evaluate differences in the retinal microvasculature and structure and choroidal structure among men and women with Alzheimer's disease (AD) compared with age-matched cognitively normal male and female controls. DESIGN: Case-control study of pa ...
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Journal ArticleNeurocase · February 2022
Fatal Familial Insomnia (FFI) is an uncommon but fatal genetic condition that is characterized by severe progressive insomnia, dysautonomia, neuropsychiatric changes, and gait instability. Diagnostic workup includes genetic testing, EEG, MRI imaging of the ...
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Journal ArticleCase Rep Neurol Med · 2022
As of March 2022, over 78 million cases of COVID-19 and 900,000 deaths have been reported in the United States. The consequences in the acute phase due to the SARS-COV-2 infection are well defined. Beyond the direct effects of severe acute respiratory synd ...
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Journal ArticleClin Epigenetics · April 25, 2024
Alzheimer's disease (AD) prevalence is twice as high in non-Hispanic Blacks (NHBs) as in non-Hispanic Whites (NHWs). The objective of this study was to determine whether aberrant methylation at imprint control regions (ICRs) is associated with AD. Differen ...
Full textLink to itemCite
Journal ArticleJAMA · April 16, 2024
IMPORTANCE: Finding a reliable diagnostic biomarker for the disorders collectively known as synucleinopathies (Parkinson disease [PD], dementia with Lewy bodies [DLB], multiple system atrophy [MSA], and pure autonomic failure [PAF]) is an urgent unmet need ...
Full textLink to itemCite
Journal ArticleHeliyon · February 15, 2024
BACKGROUND: Poor birth outcomes such as preterm birth/delivery disproportionately affect African Americans compared to White individuals. Reasons for this disparity are likely multifactorial, and include prenatal psychosocial stressors, and attendant incre ...
Full textLink to itemCite
Journal ArticleOphthalmic Surg Lasers Imaging Retina · February 2024
OBJECTIVE: This study aimed to identify peripapillary microvascular changes in Alzheimer's disease (AD) and mild cognitive impairment (MCI). PATIENTS AND METHODS: In this prospective study, 66 eyes of 36 subjects with AD, 119 eyes of 63 with MCI, and 513 e ...
Full textLink to itemCite
Journal ArticleOphthalmol Sci · 2024
PURPOSE: To develop a machine learning tool capable of differentiating eyes of subjects with normal cognition from those with mild cognitive impairment (MCI) using OCT and OCT angiography (OCTA). DESIGN: Evaluation of a diagnostic technology. PARTICIPANTS: ...
Full textLink to itemCite
Journal ArticleOphthalmol Sci · June 2023
PURPOSE: To assess the intrasession repeatability of macular OCT angiography (OCTA) parameters in Alzheimer's disease (AD), mild cognitive impairment (MCI), Parkinson's disease (PD), and normal cognition (NC). DESIGN: Cross sectional study. SUBJECTS: Patie ...
Full textOpen AccessLink to itemCite
Journal ArticleTransl Vis Sci Technol · January 3, 2023
PURPOSE: Retinal microvascular abnormalities measured on retinal images are a potential source of prognostic biomarkers of vascular changes in the neurodegenerating brain. We assessed the presence of these abnormalities in Alzheimer's dementia and mild cog ...
Full textLink to itemCite
Journal ArticleFront Mol Neurosci · 2023
Alzheimer's disease (AD) is characterized by a long preclinical phase. Although late-stage AD/dementia may be robustly differentiated from cognitively normal individuals by means of a clinical evaluation, PET imaging, and established biofluid biomarkers, d ...
Full textLink to itemCite
Journal ArticleEpigenetics · December 2022
Imprinted genes - critical for growth, metabolism, and neuronal function - are expressed from one parental allele. Parent-of-origin-dependent CpG methylation regulates this expression at imprint control regions (ICRs). Since ICRs are established before tis ...
Full textLink to itemCite
Journal ArticleAlzheimer's and Dementia · December 1, 2022
Background: The Montreal Cognitive Assessment (MoCA) is a commonly used screening tool for the diagnosis of neurocognitive disorders such as mild cognitive impairment (MCI) and Alzheimer’s Disease (AD). The current cut-off threshold for detection of MCI on ...
Full textCite
Journal ArticleRetina · July 1, 2022
PURPOSE: To assess retinal microvascular alterations in individuals with amnestic mild cognitive impairment (MCI) and nonamnestic MCI. METHODS: One hundred twelve eyes of 59 amnestic MCI participants, 32 eyes of 17 nonamnestic MCI participants, and 111 eye ...
Full textLink to itemCite
Journal ArticleActa Neuropathol Commun · March 3, 2022
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by mutations in the TSC1 and TSC2 genes and autosomal dominantly inherited. These mutations cause hyperactivation of the mammalian Target of Rapamycin (mTOR) pathway, leading to the d ...
Full textLink to itemCite
Journal ArticleBr J Ophthalmol · March 2022
BACKGROUND/AIMS: To develop a convolutional neural network (CNN) to detect symptomatic Alzheimer's disease (AD) using a combination of multimodal retinal images and patient data. METHODS: Colour maps of ganglion cell-inner plexiform layer (GC-IPL) thicknes ...
Full textOpen AccessLink to itemCite
Journal ArticleOphthalmol Sci · March 2022
PURPOSE: To evaluate differences in the retinal microvasculature and structure and choroidal structure among men and women with Alzheimer's disease (AD) compared with age-matched cognitively normal male and female controls. DESIGN: Case-control study of pa ...
Full textOpen AccessLink to itemCite
Journal ArticleNeurocase · February 2022
Fatal Familial Insomnia (FFI) is an uncommon but fatal genetic condition that is characterized by severe progressive insomnia, dysautonomia, neuropsychiatric changes, and gait instability. Diagnostic workup includes genetic testing, EEG, MRI imaging of the ...
Full textLink to itemCite
Journal ArticleCase Rep Neurol Med · 2022
As of March 2022, over 78 million cases of COVID-19 and 900,000 deaths have been reported in the United States. The consequences in the acute phase due to the SARS-COV-2 infection are well defined. Beyond the direct effects of severe acute respiratory synd ...
Full textLink to itemCite
Journal ArticleOphthalmic Surg Lasers Imaging Retina · June 2021
BACKGROUND AND OBJECTIVE: To evaluate retinal microvascular changes in early and late-onset Alzheimer's disease (AD). PATIENTS AND METHODS: Eighty-six eyes of 50 late-onset AD participants, 27 eyes of 15 early onset AD participants, and 111 eyes of 57 cogn ...
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Journal ArticleAm J Ophthalmol · March 2021
PURPOSE: To assess choroidal structural parameters in symptomatic Alzheimer disease (AD), mild cognitive impairment (MCI), and cognitively healthy control subjects. DESIGN: Prospective cross-sectional study. METHODS: This study took place in an outpatient ...
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Journal ArticleAlzheimers Dement (Amst) · 2021
INTRODUCTION: Discovering non-invasive and easily acquired biomarkers that are conducive to the accurate diagnosis of dementia is an urgent area of ongoing clinical research. One promising approach is retinal imaging, as there is homology between retinal a ...
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Journal ArticleFront Aging Neurosci · 2021
INTRODUCTION: Prior evidence suggested Apolipoprotein E (APOE), lipids, and glucose metabolism may act through the same pathways on the pathogenesis of Alzheimer's disease (AD). METHODS: This prospective study used data from the Chinese Longitudinal Health ...
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Journal ArticleNeurocase · April 2020
Globular glial tauopathy (GGT) is a rare 4-repeat tauopathy characterized by the accumulation of tau globular inclusions in astrocytes and oligodendrocytes. Several clinical phenotypes have been associated with GGT, making the prediction of this rare patho ...
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Journal ArticleJAMA Neurol · March 1, 2020
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IMPORTANCE: Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders. Tuberous sclerosis-associated neuropsychiatric disorders symptoms overlap with cl ...
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Journal ArticleCase Rep Neurol Med · 2020
A 76-year-old Caucasian woman initially presented to the Duke Memory Disorders clinic with a 9-month history of a rapid decline in cognitive, motor, and neuropsychiatric function. On initial presentation, the patient required assistance with activities of ...
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