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3 results on '"Tamara Shiner"'

1. R869C mutation in molecular motor KIF17 gene is involved in dementia with Lewy bodies

Author

Orly Goldstein, Mali Gana‐Weisz, Tamara Shiner, Reut Attar, Yael Mordechai, Yedael Y. Waldman, Anat Bar‐Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, and Avi Orr‐Urtreger

Subjects
dementia with Lewy bodies, GBA, KIF17, Parkinson's disease, risk allele, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Introduction: The GBA‐N370S mutation is one of the most frequent risk factors for dementia with Lewy bodies (DLB) and Parkinson's disease (PD). We looked for genetic variations that contribute to the outcome in N370S‐carriers, whether PD or DLB. Methods Whole‐genome sequencing of 95 Ashkenazi‐N370S‐carriers affected with either DLB (n = 19) or PD (n = 76) was performed, and 564 genes related to dementia and PD analyzed. Results We identified enrichment of linked alleles in PINK1 locus in DLB patients (false discovery rate P = .0412). Haplotype analysis delineated 1.8 Mb interval encompassing 29 genes and 87 unique variants, of them, KIF17‐R869C received the highest functional prediction score (Combined Annotation Dependent Depletion = 34). Its frequency was significantly higher in 26 DLB‐N370S‐carriers compared to 140 PD‐N370S‐carriers (odds ratio [OR] = 33.4 P = .001, and OR = 70.2 when only heterozygotes were included). Discussion Because KIF17 was shown to be important for learning and memory in mice, our data further suggest, for the first time, its involvement in DLB, and possibly in human dementia.

Published
2021
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2. Dissociation in awareness of memory and language decline in Alzheimer's disease

Author

Alzheimer’s Disease Neuroimaging Initiative, Tamara Shiner, Iftah Biran, Gitit Kavé, and Noa Bregman

Subjects
Male, Dissociation (neuropsychology), Neuroimaging, Disease, Negative association, Neuropsychological Tests, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Memory, medicine, Humans, Dementia, Memory test, Aged, Language, Language Disorders, Memory Disorders, 030214 geriatrics, Anosognosia, Cognition, Awareness, medicine.disease, Psychiatry and Mental health, Female, Geriatrics and Gerontology, Psychology, Clinical psychology
Abstract

Objectives The aim of this study was to examine awareness of decline in memory and in language in individuals with Alzheimer's disease (AD), by comparing participant and informant ratings, as well as these ratings and actual test performance. Methods We analyzed data from 149 individuals with AD enrolled in the Alzheimer's Disease Neuroimaging Initiative (ADNI) who filled the Everyday Cognition questionnaire and performed memory and language tasks. Results Participants provided significantly lower assessments of decline than did informants for both memory and language. There was a negative association between informant ratings and memory test scores but no association between participant ratings and memory test scores. Both participant and informant ratings correlated negatively with performance on the language tests. Informant, but not participant, ratings contributed to the prediction of one memory variable beyond demographic factors. Participant ratings contributed to the prediction of language scores beyond demographic factors more than did informant ratings. Conclusions The findings reflect better awareness of decline in language than of decline in memory in individuals with AD.

Published
2018
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