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Article ; Online: Integrating functional genomics with genetics to understand the biology of ALS and FTD.

Cruchaga, Carlos

Med (New York, N.Y.)

2022 Volume 3, Issue 4, Page(s) 226–227

Abstract: Genetic variants in chromosome 19 are strongly associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Ma et al. ...

Abstract	Genetic variants in chromosome 19 are strongly associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Ma et al.
MeSH term(s)	Amyotrophic Lateral Sclerosis/genetics ; Frontotemporal Dementia/genetics ; Genomics ; Humans ; Pick Disease of the Brain
Language	English
Publishing date	2022-05-16
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Comment
ISSN	2666-6340
ISSN (online)	2666-6340
DOI	10.1016/j.medj.2022.03.008
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Article ; Online: Predictors and outcomes of fluctuations in the clinical dementia rating scale.

Wilks, Hannah / Benzinger, Tammie L S / Schindler, Suzanne E / Cruchaga, Carlos / Morris, John C / Hassenstab, Jason

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

2024 Volume 20, Issue 3, Page(s) 2080–2088

Abstract: Introduction: Reversion, or change in cognitive status from impaired to normal, is common in aging and dementia studies, but it remains unclear what factors predict reversion.: Methods: We investigated whether reverters, defined as those who revert ... ...

Abstract	Introduction: Reversion, or change in cognitive status from impaired to normal, is common in aging and dementia studies, but it remains unclear what factors predict reversion. Methods: We investigated whether reverters, defined as those who revert from a Clinical Dementia Rating® (CDR®) scale score of 0.5 to CDR 0) differed on cognition and biomarkers from unimpaired participants (always CDR 0) and impaired participants (converted to CDR > 0 and had no reversion events). Models evaluated relationships between biomarker status, apolipoprotein E (APOE) ε4 status, and cognition. Additional models described predictors of reversion and predictors of eventual progression to CDR > 0. Results: CDR reversion was associated with younger age, better cognition, and negative amyloid biomarker status. Reverters that eventually progressed to CDR > 0 had more visits, were older, and were more likely to have an APOE ε4 allele. Discussion: CDR reversion occupies a transitional phase in disease progression between cognitive normality and overt dementia. Reverters may be ideal candidates for secondary prevention Alzheimer's disease (AD) trials. Highlights: Reverters had more longitudinal cognitive decline than those who remained cognitively normal. Predictors of reversion: younger age, better cognition, and negative amyloid biomarker status. Reverting from CDR 0.5 to 0 is a risk factor for future conversion to CDR > 0. CDR reversion may be a transitional phase in Alzheimer's Disease progression. CDR reverters may be ideal for Alzheimer's disease secondary prevention trials.
MeSH term(s)	Humans ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/genetics ; Cognitive Dysfunction/psychology ; Cognition ; Mental Status and Dementia Tests ; Biomarkers ; Disease Progression
Chemical Substances	Biomarkers
Language	English
Publishing date	2024-01-15
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.13679
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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: Editorial: Molecular and cellular mechanisms of synaptopathies: emerging synaptic aging-related molecular pathways in neurological disorders.

Quintá, Hector Ramiro / Ibanez, Laura / Cruchaga, Carlos / Maschi, Dario

Frontiers in aging neuroscience

2023 Volume 15, Page(s) 1267033

Language	English
Publishing date	2023-08-10
Publishing country	Switzerland
Document type	Editorial
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2023.1267033
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Article ; Online: Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases.

Farias, Fabiana H G / Benitez, Bruno A / Cruchaga, Carlos

Neurobiology of disease

2021 Volume 151, Page(s) 105247

Abstract: Endophenotypes, as measurable intermediate features of human diseases, reflect underlying molecular mechanisms. The use of quantitative endophenotypes in genetic studies has improved our understanding of pathophysiological changes associated with ... ...

Abstract	Endophenotypes, as measurable intermediate features of human diseases, reflect underlying molecular mechanisms. The use of quantitative endophenotypes in genetic studies has improved our understanding of pathophysiological changes associated with diseases. The main advantage of the quantitative endophenotypes approach to study human diseases over a classic case-control study design is the inferred biological context that can enable the development of effective disease-modifying treatments. Here, we summarize recent progress on biomarkers for neurodegenerative diseases, including cerebrospinal fluid and blood-based, neuroimaging, neuropathological, and clinical studies. This review focuses on how endophenotypic studies have successfully linked genetic modifiers to disease risk, disease onset, or progression rate and provided biological context to genes identified in genome-wide association studies. Finally, we review critical methodological considerations for implementing this approach and future directions.
MeSH term(s)	Endophenotypes ; Genetic Predisposition to Disease ; Humans ; Neurodegenerative Diseases/genetics ; Risk Factors
Language	English
Publishing date	2021-01-08
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2020.105247
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Zs.A 4444: Show issues

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Article ; Online: Blood-Based Proteomics for Adult-Onset Focal Dystonias.

Timsina, Jigyasha / Dinasarapu, Ashok / Kilic-Berkmen, Gamze / Budde, John / Sung, Yun Ju / Klein, Adam M / Cruchaga, Carlos / Jinnah, H A

Annals of neurology

2024

Abstract: Objectives: The adult-onset focal dystonias are characterized by over-active muscles leading to abnormal movements. For most cases, the etiology and pathogenesis remain unknown. In the current study, unbiased proteomics methods were used to identify ... ...

Abstract	Objectives: The adult-onset focal dystonias are characterized by over-active muscles leading to abnormal movements. For most cases, the etiology and pathogenesis remain unknown. In the current study, unbiased proteomics methods were used to identify potential changes in blood plasma proteins. Methods: A large-scale unbiased proteomics screen was used to compare proteins (N = 6,345) in blood plasma of normal healthy controls (N = 49) with adult-onset focal dystonia (N = 143) consisting of specific subpopulations of cervical dystonia (N = 45), laryngeal dystonia (N = 49), and blepharospasm (N = 49). Pathway analyses were conducted to identify relevant biological pathways. Finally, protein changes were used to build a prediction model for dystonia. Results: After correction for multiple comparisons, 15 proteins were associated with adult-onset focal dystonia. Subgroup analyses revealed some proteins were shared across the dystonia subgroups while others were unique to 1 subgroup. The top biological pathways involved changes in the immune system, metal ion transport, and reactive oxygen species. A 4-protein model showed high accuracy in discriminating control individuals from dystonia cases [average area under the curve (AUC) = 0.89]. Interpretation: These studies provide novel insights into the etiopathogenesis of dystonia, as well as novel potential biomarkers. ANN NEUROL 2024.
Language	English
Publishing date	2024-04-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26929
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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: Advances in Genetic and Molecular Understanding of Alzheimer's Disease.

Ibanez, Laura / Cruchaga, Carlos / Fernández, Maria Victoria

Genes

2021 Volume 12, Issue 8

Abstract: Alzheimer's disease (AD) has become a common disease of the elderly for which no cure currently exists. After over 30 years of intensive research, we have gained extensive knowledge of the genetic and molecular factors involved and their interplay in ... ...

Abstract	Alzheimer's disease (AD) has become a common disease of the elderly for which no cure currently exists. After over 30 years of intensive research, we have gained extensive knowledge of the genetic and molecular factors involved and their interplay in disease. These findings suggest that different subgroups of AD may exist. Not only are we starting to treat autosomal dominant cases differently from sporadic cases, but we could be observing different underlying pathological mechanisms related to the amyloid cascade hypothesis, immune dysfunction, and a tau-dependent pathology. Genetic, molecular, and, more recently, multi-omic evidence support each of these scenarios, which are highly interconnected but can also point to the different subgroups of AD. The identification of the pathologic triggers and order of events in the disease processes are key to the design of treatments and therapies. Prevention and treatment of AD cannot be attempted using a single approach; different therapeutic strategies at specific disease stages may be appropriate. For successful prevention and treatment, biomarker assays must be designed so that patients can be more accurately monitored at specific points during the course of the disease and potential treatment. In addition, to advance the development of therapeutic drugs, models that better mimic the complexity of the human brain are needed; there have been several advances in this arena. Here, we review significant, recent developments in genetics, omics, and molecular studies that have contributed to the understanding of this disease. We also discuss the implications that these contributions have on medicine.
MeSH term(s)	Alzheimer Disease/genetics ; Alzheimer Disease/metabolism ; Alzheimer Disease/therapy ; Amyloid beta-Peptides/metabolism ; Biomarkers/metabolism ; Humans
Chemical Substances	Amyloid beta-Peptides ; Biomarkers
Language	English
Publishing date	2021-08-15
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12081247
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Article: Harmonization of CSF and imaging biomarkers for Alzheimer's disease biomarkers: need and practical applications for genetics studies and preclinical classification.

Timsina, Jigyasha / Ali, Muhammad / Do, Anh / Wang, Lihua / Sung, Yun Ju / Cruchaga, Carlos

bioRxiv : the preprint server for biology

2023

Abstract: Introduction: In Alzheimer's disease (AD) research, cerebrospinal fluid (CSF) Amyloid beta (Aβ), Tau and pTau are the most accepted and well validated biomarkers. Several methods and platforms exist to measure those biomarkers which leads to challenges ... ...

Abstract	Introduction: In Alzheimer's disease (AD) research, cerebrospinal fluid (CSF) Amyloid beta (Aβ), Tau and pTau are the most accepted and well validated biomarkers. Several methods and platforms exist to measure those biomarkers which leads to challenges in combining data across studies. Thus, there is a need to identify methods that harmonize and standardize these values. Methods: We used a Z-score based approach to harmonize CSF and amyloid imaging data from multiple cohorts and compared GWAS result using this method with currently accepted methods. We also used a generalized mixture modelling to calculate the threshold for biomarker-positivity. Results: Z-scores method performed as well as meta-analysis and did not lead to any spurious results. Cutoffs calculated with this approach were found to be very similar to those reported previously. Discussion: This approach can be applied to heterogeneous platforms and provides biomarker cut-offs consistent with the classical approaches without requiring any additional data.
Language	English
Publishing date	2023-05-24
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.05.24.542118
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Article ; Online: Relationships between hourly cognitive variability and risk of Alzheimer's disease revealed with mixed-effects location scale models.

Aschenbrenner, Andrew J / Hassenstab, Jason / Morris, John C / Cruchaga, Carlos / Jackson, Joshua J

Neuropsychology

2023 Volume 38, Issue 1, Page(s) 69–80

Abstract: Objective: Observational studies on aging and Alzheimer's disease (AD) typically focus on mean-level changes in cognitive performance over relatively long periods of time (years or decades). Additionally, some studies have examined how trial-level ... ...

Abstract	Objective: Observational studies on aging and Alzheimer's disease (AD) typically focus on mean-level changes in cognitive performance over relatively long periods of time (years or decades). Additionally, some studies have examined how trial-level fluctuations in speeded reaction time are related to both age and AD. The aim of the current project was to describe patterns of variability across repeated days of testing as a function of AD risk in cognitively normal older adults. Method: The current project examined the performance of the Ambulatory Research in Cognition (ARC) smartphone application, a high-frequency remote cognitive assessment paradigm, that administers brief tests of episodic memory, spatial working memory, and processing speed. Bayesian mixed-effects location scale models were used to explore differences in mean cognitive performance and intraindividual variability across 28 repeated sessions over a 1-week assessment interval as function of age and genetic risk of AD, specifically the presence of at least one apolipoprotein E (APOE) ε4 allele. Results: Mean performance on processing speed and working memory was negatively related to age and APOE status. More importantly, e4 carriers exhibited increased session-level variability on a test of processing speed compared to noncarriers. Age and education did not consistently relate to cognitive variability, contrary to expectations. Conclusion: Preclinical AD risk, defined as possessing at least one APOE ε4 allele, is not only associated with mean-level performance differences, but also with increases in variability across repeated testing occasions particularly on a test of processing speed. Thus, cognitive variability may serve as an additional and important indicator of AD risk. (PsycInfo Database Record (c) 2023 APA, all rights reserved).
MeSH term(s)	Humans ; Aged ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Alzheimer Disease/complications ; Bayes Theorem ; Apolipoprotein E4/genetics ; Neuropsychological Tests ; Cognition ; Apolipoproteins E/genetics ; Genotype
Chemical Substances	Apolipoprotein E4 ; Apolipoproteins E
Language	English
Publishing date	2023-04-20
Publishing country	United States
Document type	Journal Article
ZDB-ID	1042412-x
ISSN	1931-1559 ; 0894-4105
ISSN (online)	1931-1559
ISSN	0894-4105
DOI	10.1037/neu0000905
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Zs.A 3002: Show issues

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Article: Locus specific endogenous retroviral expression associated with Alzheimer's disease.

Dawson, Tyson / Rentia, Uzma / Sanford, Jessie / Cruchaga, Carlos / Kauwe, John S K / Crandall, Keith A

Frontiers in aging neuroscience

2023 Volume 15, Page(s) 1186470

Abstract: Introduction: Human endogenous retroviruses (HERVs) are transcriptionally-active remnants of ancient retroviral infections that may play a role in Alzheimer's disease.: Methods: We combined two, publicly available RNA-Seq datasets with a third, novel ...

Abstract	Introduction: Human endogenous retroviruses (HERVs) are transcriptionally-active remnants of ancient retroviral infections that may play a role in Alzheimer's disease. Methods: We combined two, publicly available RNA-Seq datasets with a third, novel dataset for a total cohort of 103 patients with Alzheimer's disease and 45 healthy controls. We use telescope to perform HERV quantification for these samples and simultaneously perform gene expression analysis. Results: We identify differentially expressed genes and differentially expressed HERVs in Alzheimer's disease patients. Differentially expressed HERVs are scattered throughout the genome; many of them are members of the HERV-K superfamily. A number of HERVs are correlated with the expression of dysregulated genes in Alzheimer's and are physically proximal to genes which drive disease pathways. Discussion: Dysregulated expression of ancient retroviral insertions in the human genome are present in Alzheimer's disease and show localization patterns that may explain how these elements drive pathogenic gene expression.
Language	English
Publishing date	2023-07-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2558898-9
ISSN	1663-4365
ISSN	1663-4365
DOI	10.3389/fnagi.2023.1186470
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Article ; Online: Severe acute neurotoxicity reflects absolute intra-carotid 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine dose in non-human primates.

Norris, S A / White, Hcb / Tanenbaum, A / Williams, E L / Cruchaga, C / Tian, L / Schmidt, R E / Perlmutter, J S

Journal of neuroscience methods

2021 Volume 366, Page(s) 109406

MeSH term(s)	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine ; Animals ; Corpus Striatum ; MPTP Poisoning ; Primates ; Pyrrolidines ; Substantia Nigra
Chemical Substances	Pyrrolidines ; 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (9P21XSP91P)
Language	English
Publishing date	2021-11-09
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	282721-9
ISSN	1872-678X ; 0165-0270
ISSN (online)	1872-678X
ISSN	0165-0270
DOI	10.1016/j.jneumeth.2021.109406
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Zs.A 1486: Show issues

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