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Article ; Online: Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism.

Coin, J Thaddeus / Vance, Jeffery M

Movement disorders : official journal of the Movement Disorder Society

2021 Volume 36, Issue 5, Page(s) 1264–1267

Abstract: Objective: The aim of this study was to report relief of optokinetic-triggered vertigo (OKTV) with low-dose gabapentin in three patients with periodic vestibulocerebellar ataxia [episodic ataxia type 4 (EA4); OMIM 606552].: Methods: Clinical ... ...

Abstract	Objective: The aim of this study was to report relief of optokinetic-triggered vertigo (OKTV) with low-dose gabapentin in three patients with periodic vestibulocerebellar ataxia [episodic ataxia type 4 (EA4); OMIM 606552]. Methods: Clinical observations and analysis of video-recorded eye movements were used before and after gabapentin. Results: Gabapentin relieved vertigo of all three treated patients with EA4, particularly during activities that typically would induce vertiginous symptoms. Two patients reported 8-12 hours of sustained relief after the first 100 mg dose. One has benefited from 100-200 mg TID for 7 years. Video analysis of nystagmus revealed improved target tracking on smooth pursuit and a steadier gaze hold. Conclusions: Gabapentin effectively relieved the optokinetic-triggered vertigo in our patients with EA4. Mechanisms are postulated in terms of known tight gabapentin binding to the Purkinje cell voltage-gated calcium channel. The observations may offer insight into this rare disease's neuropathology. © 2021 International Parkinson and Movement Disorder Society.
MeSH term(s)	Ataxia ; Gabapentin ; Humans ; Nystagmus, Pathologic/drug therapy ; Vertigo/drug therapy ; Vertigo/etiology
Chemical Substances	Gabapentin (6CW7F3G59X)
Language	English
Publishing date	2021-01-16
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.28491
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Zs.A 2555: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 238: Show issues

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Article ; Online: Reply to: Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism.

Coin, J Thaddeus / Vance, Jeffery M

Movement disorders : official journal of the Movement Disorder Society

2021 Volume 36, Issue 8, Page(s) 1991

MeSH term(s)	Ataxia/drug therapy ; Gabapentin ; Humans ; Vertigo/drug therapy ; Vertigo/etiology
Chemical Substances	Gabapentin (6CW7F3G59X)
Language	English
Publishing date	2021-08-19
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.28677
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Zs.A 2555: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 238: Show issues

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Article ; Online: Attitudes and Perceptions about Brain Donation Among African Americans: Implications for Recruitment into Alzheimer's Disease Research.

Caban-Holt, Allison / Cuccaro, Michael L / Lloyd, Shawnta L / Starks, Takiyah D / Adams, Larry D / Ford, Tayla / Haines, Jonathan L / Beecham, Gary / Reitz, Christiane / Vance, Jeffery M / Pericak-Vance, Margaret A / Byrd, Goldie S

Journal of Alzheimer's disease : JAD

2024 Volume 97, Issue 4, Page(s) 1621–1627

Abstract: The objective of this study was to investigate attitudes toward brain donation and perceptions of medical research that influence brain donation among African Americans. Cross-sectional surveys were administered to African American community members (n = ...

Abstract	The objective of this study was to investigate attitudes toward brain donation and perceptions of medical research that influence brain donation among African Americans. Cross-sectional surveys were administered to African American community members (n = 227). Findings indicate that only 27% of respondents were willing to donate their brain. As medical mistrust was not found to be a significant barrier to research participation, there may be opportunity to increase brain donation by providing information about Alzheimer's disease and brain donation to potential donors and their families so that informed decisions about participating in research can be made.
MeSH term(s)	Humans ; Alzheimer Disease ; Attitude ; Black or African American/psychology ; Brain ; Cross-Sectional Studies ; Health Knowledge, Attitudes, Practice ; Surveys and Questionnaires ; Tissue and Organ Procurement ; Patient Selection ; Biomedical Research
Language	English
Publishing date	2024-02-02
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-230461
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Article ; Online: Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer's disease-associated variant in SORL1.

DeRosa, Brooke A / Simon, Shaina A / Velez, Christina A / Vance, Jeffery M / Pericak-Vance, Margaret A / Dykxhoorn, Derek M

Stem cell research

2022 Volume 62, Page(s) 102823

Abstract: Alzheimer's disease (AD) is the leading cause of dementia among older adults. SORL1, a top AD risk gene, encodes an endocytic receptor involved amyloid precursor protein (APP) trafficking and processing. Rare loss-of-function SORL1 variants are a strong ... ...

Abstract	Alzheimer's disease (AD) is the leading cause of dementia among older adults. SORL1, a top AD risk gene, encodes an endocytic receptor involved amyloid precursor protein (APP) trafficking and processing. Rare loss-of-function SORL1 variants are a strong genetic determinant of AD, and protein-truncating mutations have been found to be causal. We derived iPSCs from two siblings affected with early-onset AD who carry a rare protein-truncating deletion in SORL1 (c.4293delC) (Kunkle et al., 2017). The iPSC lines were characterized for pluripotency, differentiation potential, and genomic stability. These lines are a valuable resource for studying pathogenic mechanisms underlying AD.
MeSH term(s)	Aged ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Genetic Predisposition to Disease ; Humans ; Induced Pluripotent Stem Cells/metabolism ; LDL-Receptor Related Proteins/genetics ; Membrane Transport Proteins/genetics ; Siblings
Chemical Substances	Amyloid beta-Peptides ; LDL-Receptor Related Proteins ; Membrane Transport Proteins ; SORL1 protein, human
Language	English
Publishing date	2022-05-30
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2393143-7
ISSN	1876-7753 ; 1873-5061
ISSN (online)	1876-7753
ISSN	1873-5061
DOI	10.1016/j.scr.2022.102823
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Article ; Online: Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer's disease carrying an ABCA7 deletion (p.Arg578Alafs).

Cukier, Holly N / Simon, Shaina A / Tang, Eugene / Golightly, Charles G / Laverde-Paz, Mayra Juliana / Adams, Larry Deon / Starks, Takiyah D / Vance, Jeffery M / Cuccaro, Michael L / Haines, Jonathan L / Byrd, Goldie S / Pericak-Vance, Margaret A / Dykxhoorn, Derek M

Stem cell research

2024 Volume 76, Page(s) 103364

Abstract: The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer's disease (AD) risk in populations of African, Asian, and European ... ...

Abstract	The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer's disease (AD) risk in populations of African, Asian, and European ancestry
MeSH term(s)	Humans ; Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; ATP-Binding Cassette Transporters/genetics ; Black or African American/genetics ; Induced Pluripotent Stem Cells/cytology ; Mutation ; Cell Line
Chemical Substances	ABCA7 protein, human ; ATP-Binding Cassette Transporters
Language	English
Publishing date	2024-02-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2393143-7
ISSN	1876-7753 ; 1873-5061
ISSN (online)	1876-7753
ISSN	1873-5061
DOI	10.1016/j.scr.2024.103364
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Article ; Online: Report of the APOE4 National Institute on Aging/Alzheimer Disease Sequencing Project Consortium Working Group: Reducing APOE4 in Carriers is a Therapeutic Goal for Alzheimer's Disease.

Vance, Jeffery M / Farrer, Lindsay A / Huang, Yadong / Cruchaga, Carlos / Hyman, Bradley T / Pericak-Vance, Margaret A / Goate, Alison M / Greicius, Michael D / Griswold, Anthony J / Haines, Jonathan L / Tcw, Julia / Schellenberg, Gerard D / Tsai, Li-Huei / Herz, Joachim / Holtzman, David M

Annals of neurology

2024 Volume 95, Issue 4, Page(s) 625–634

Abstract: Alzheimer's disease (AD) is the most common neurodegenerative disorder and one of the leading causes of disability worldwide. The apolipoprotein E4 gene (APOE4) is the strongest genetic risk factor for AD. In 2023, the APOE4 National Institute on Aging/ ... ...

Abstract	Alzheimer's disease (AD) is the most common neurodegenerative disorder and one of the leading causes of disability worldwide. The apolipoprotein E4 gene (APOE4) is the strongest genetic risk factor for AD. In 2023, the APOE4 National Institute on Aging/Alzheimer's Disease Sequencing Project working group came together to gather data and discuss the question of whether to reduce or increase APOE4 as a therapeutic intervention for AD. It was the unanimous consensus that cumulative data from multiple studies in humans and animal models support that lowering APOE4 should be a target for therapeutic approaches for APOE4 carriers. ANN NEUROL 2024;95:625-634.
MeSH term(s)	Animals ; United States ; Humans ; Alzheimer Disease/therapy ; Alzheimer Disease/drug therapy ; Apolipoprotein E4/genetics ; Goals ; National Institute on Aging (U.S.)
Chemical Substances	Apolipoprotein E4
Language	English
Publishing date	2024-01-05
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26864
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Zs.A 1370: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 478: Show issues

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Article ; Online: Leveraging African American family connectors for Alzheimer's disease genomic studies.

Byfield, Grace / Starks, Takiyah D / Luther, Ronqeiya / Edwards, Christopher L / Lloyd, Shawnta L / Caban-Holt, Allison / Adams, Larry Deon / Vance, Jeffery M / Cuccaro, Michael / Haines, Jonathan L / Reitz, Christiane / Pericak-Vance, Margaret A / Byrd, Goldie S

Alzheimer's & dementia : the journal of the Alzheimer's Association

2023 Volume 19, Issue 12, Page(s) 5437–5446

Abstract: Introduction: The underrepresentation of African Americans (AAs) in Alzheimer's disease (AD) research may limit potential benefits from translational applications. This article describes an approach to recruit AA families into an AD genomic study and ... ...

Abstract	Introduction: The underrepresentation of African Americans (AAs) in Alzheimer's disease (AD) research may limit potential benefits from translational applications. This article describes an approach to recruit AA families into an AD genomic study and characteristics of seeds (family connectors) used to overcome recruitment barriers of AA families into AD research. Methods: A four-step outreach and snowball sampling approach relying on family connectors was used to recruit AA families. Descriptive statistics of a profile survey were gathered to understand the demographic and health characteristics of family connectors. Results: Twenty-five AA families (117 participants) were enrolled in the study via family connectors. Most family connectors self-identified as female (88%), were 60 years of age or older (76%), and attained post-secondary education (77%). Discussion: Community-engaged strategies were essential to recruit AA families. Relationships between study coordinators and family connectors build trust early in the research process among AA families. Highlights: Community events were most effective for recruiting African American families. Family connectors were primarily female, in good health, and highly educated. Systematic efforts by researchers are necessary to "sell" a study to participants.
MeSH term(s)	Female ; Humans ; Alzheimer Disease/genetics ; Black or African American ; Genomics ; Male ; Middle Aged
Language	English
Publishing date	2023-05-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2211627-8
ISSN	1552-5279 ; 1552-5260
ISSN (online)	1552-5279
ISSN	1552-5260
DOI	10.1002/alz.13106
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Zs.A 6316: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 540: Show issues

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Article: African ancestry

Rajabli, Farid / Seixas, Azizi A / Akgun, Bilcag / Adams, Larry D / Inciute, Jovita / Starks, Takiyah / Laux, Renee / Byrd, Goldie S / Haines, Jonathan L / Beecham, Gary W / Vance, Jeffery M / Cuccaro, Michael L / Pericak-Vance, Margaret A

medRxiv : the preprint server for health sciences

2023

Abstract: Cognitive and functional abilities in individuals with Alzheimer disease (AD) pathology (ADP) show greater than expected variability. While most individuals show substantial impairments in these abilities, a considerable number show little or no ... ...

Abstract	Cognitive and functional abilities in individuals with Alzheimer disease (AD) pathology (ADP) show greater than expected variability. While most individuals show substantial impairments in these abilities, a considerable number show little or no impairments. Factors contributing to this variability are not well understood. For instance, multiple studies have shown that higher levels of education are associated with reduced cognitive impairments among those with ADP. However, it remains unclear whether higher levels of education are associated with functional impairments among those with ADP. We studied 410 AA individuals with advanced levels of pTau181 (a biomarker for ADP; individuals as those having log
Language	English
Publishing date	2023-07-08
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.07.06.23292263
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Article ; Online: Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.

Laverde-Paz, Mayra Juliana / Nuytemans, Karen / Wang, Liyong / Vance, Jeffery M / Pericak-Vance, Margaret A / Dykxhoorn, Derek M / Cukier, Holly N

Stem cell research

2021 Volume 52, Page(s) 102258

Abstract: The UMi028-A-2 human induced pluripotent stem cell line carries a homozygous mutation (rs377155188, C>G, p.S1038C) in the tetratricopeptide repeat domain 3 (TTC3) gene that was introduced via CRISPR/Cas9 genome editing. The line was originally derived ... ...

Abstract	The UMi028-A-2 human induced pluripotent stem cell line carries a homozygous mutation (rs377155188, C>G, p.S1038C) in the tetratricopeptide repeat domain 3 (TTC3) gene that was introduced via CRISPR/Cas9 genome editing. The line was originally derived from a neurologically normal male and has been thoroughly characterized following editing. The p.S1038C variant has been shown to potentially contribute to the risk of late onset Alzheimer's disease and is a resource to further investigate the consequences of TTC3 and this alteration in disease pathology.
MeSH term(s)	Alzheimer Disease/genetics ; CRISPR-Cas Systems/genetics ; Cell Line ; Gene Editing ; Humans ; Induced Pluripotent Stem Cells ; Male ; Ubiquitin-Protein Ligases
Chemical Substances	TTC3 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2021-02-18
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2393143-7
ISSN	1876-7753 ; 1873-5061
ISSN (online)	1876-7753
ISSN	1873-5061
DOI	10.1016/j.scr.2021.102258
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Article ; Online: African Ancestry Individuals with Higher Educational Attainment Are Resilient to Alzheimer's Disease Measured by pTau181.

Journal of Alzheimer's disease : JAD

2024 Volume 98, Issue 1, Page(s) 221–229

Abstract: Background: Cognitive and functional abilities in individuals with Alzheimer's disease (AD) pathology (ADP) are highly variable. Factors contributing to this variability are not well understood. Previous research indicates that higher educational ... ...

Abstract	Background: Cognitive and functional abilities in individuals with Alzheimer's disease (AD) pathology (ADP) are highly variable. Factors contributing to this variability are not well understood. Previous research indicates that higher educational attainment (EA) correlates with reduced cognitive impairments among those with ADP. While cognitive and functional impairments are correlated, they are distinguishable in their manifestations. Objective: To investigate whether levels of education are associated with functional impairments among those with ADP. Methods: This research involved 410 African American (AA) individuals (Institutional Review Boards 20070307, 01/27/2023) to ascertain whether EA correlates with functional resilience and if this effect varies between APOE ɛ4 carriers and non-carriers. Utilizing EA as a cognitive reserve proxy, CDR-FUNC as a functional difficulties measure, and blood pTau181 as an ADP proxy, the non-parametric Mann-Whitney U test assessed the relationship between EA and CDR-FUNC in individuals with advanced pTau181 levels. Results: The results showed that EA correlated with functional difficulties in AA individuals with high levels of pTau181, such that individuals with high EA are more likely to have better functional ability compared to those with lower EA (W = 730.5, p = 0.0007). Additionally, we found that the effect of high EA on functional resilience was stronger in ɛ4 non-carriers compared to ɛ4 carriers (W = 555.5, p = 0.022). Conclusion: This study extends the role of cognitive reserve and EA to functional performance showing that cognitive reserve influences the association between ADP burden and functional difficulties. Interestingly, this protective effect seems less pronounced in carriers of the strong genetic risk allele ɛ4.
MeSH term(s)	Humans ; Alzheimer Disease/genetics ; Resilience, Psychological ; Apolipoprotein E4/genetics ; Cognitive Dysfunction/genetics ; Educational Status
Chemical Substances	Apolipoprotein E4
Language	English
Publishing date	2024-02-23
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-231116
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