Paul J. Massman

Genetic modifiers of APOE-ε4-associated cognitive decline

Alex G. Contreras, Skylar Walters, Jaclyn M. Eissman, Derek B. Archer et autres

The APOE-ε4 allele is the strongest genetic risk factor for late-onset Alzheimer's disease. However, APOE-ε4 is not deterministic, highlighting the need to identify additional genetic and environmental factors. APOE-ε4 has been linked to accelerated cognitive decline, so we sought to investigate genetic …

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Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease

Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas A. Kushch et autres

BACKGROUND: Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) …

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Amyloid-β predominant Alzheimer’s disease neuropathologic change

Gábor G. Kovács, Yuriko Katsumata, Xian Wu, Khine Zin Aung et autres

Different subsets of Alzheimer's disease neuropathologic change (ADNC), including the intriguing set of individuals with severe/widespread amyloid-β (Aβ) plaques but no/mild tau tangles [Aβ-predominant (AP)-ADNC], may have distinct genetic and clinical features. Analysing National Alzheimer's Coordinating Center data, we stratified 1187 participants …

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LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry

Yuriko Katsumata, David W. Fardo, Lincoln M. P. Shade, James D. Bowen et autres

Limbic-predominant age-related TDP-43 encephalopathy (LATE) affects approximately one-third of older individuals and is associated with cognitive impairment. However, there is a highly incomplete understanding of the genetic determinants of LATE neuropathologic changes (LATE-NC) in diverse populations. The defining neuropathologic feature of LATE-NC …

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Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults

Skylar Walters, Alex G. Contreras, Jaclyn M. Eissman, Shubhabrata Mukherjee et autres

Importance: Sex differences are established in associations between apolipoprotein E (APOE) ε4 and cognitive impairment in Alzheimer disease (AD). However, it is unclear whether sex-specific cognitive consequences of APOE are consistent across races and extend to the APOE ε2 allele. Objective: To …

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Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK , GRB14 , and KIAA0825 as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas A. Kushch et autres

ABSTRACT Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in non-European ancestry groups in genome-wide association studies (GWAS). We constructed and analyzed a multi-ancestry GWAS dataset in the Alzheimer’s Disease (AD) Genetics Consortium (ADGC) to test for …

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New insights into the genetic etiology of Alzheimer’s disease and related dementias

Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam et autres

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. …

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Safety and efficacy of pioglitazone for the delay of cognitive impairment in people at risk of Alzheimer's disease (TOMMORROW): a prognostic biomarker study and a phase 3, randomised, double-blind, placebo-controlled trial

Daniel K. Burns, Robert Alexander, Kathleen A. Welsh‐Bohmer, Meredith Culp et autres

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Chinese Version of the Baylor Profound Mental Status Examination: A Brief Staging Measure for Patients with Severe Alzheimer's Disease

Xiaoqin Fu, Weihua Yu, Mo Ke, X. Wang et autres

BACKGROUND: A specialized instrument for assessing the cognition of patients with severe Alzheimer's disease (AD) is needed in China. OBJECTIVES: To validate the Chinese version of the Baylor Profound Mental Status Examination (BPMSE-Ch). DESIGN: The BPMSE is a simplified scale which has …

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Predictors of rate of cognitive decline in patients with amnestic mild cognitive impairment

Brittany Cerbone, Paul J. Massman, Paulina A. Kulesz, Steven Paul Woods et autres

OBJECTIVE: Amnestic mild cognitive impairment (MCI) is a known risk factor for conversion to Alzheimer's disease (AD). Although substantial research has been conducted on the general profile of amnestic MCI subjects and predictors of conversion to AD, research on predictors of rate …

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Benefit of phonemic cueing on confrontation naming in Alzheimer's disease

Brittany Cerbone, Paul J. Massman, Steven Paul Woods, Michele K. York

Objective: Deficits in confrontation naming vary among persons with Alzheimer’s disease (AD), including the extent to which phonemic cueing is helpful in generating the target word. This study examined neuropsychological correlates of phonemic cueing benefit and the influential effects of AD severity, …

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Cognitive impairment and postural control deficit in adults with Type 2 diabetes

Stacey L. Gorniak, Fangmei Yoshimi Lu, Beom Chan Lee, Paul J. Massman et autres

BACKGROUND: Diseases induced by metabolic disorders, eg, Type 2 diabetes, has recently been linked to both sensory and motor deficit in the absence of a formal clinical diagnosis of peripheral neuropathy. Studies have demonstrated mild cognitive impairment in diabetic patients, which also …

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