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5. Human restricted CHRFAM7A gene increases brain efficiency.

Author

Jakimovski, Dejan, Dorn, Ryu P., Del Regno, Megan, Bartnik, Alexander, Bergsland, Niels, Ramanathan, Murali, Dwyer, Michael G., Benedict, Ralph H. B., Zivadinov, Robert, and Szigeti, Kinga

Subjects
COGNITIVE processing speed, VERBAL learning, CYTOLOGY, VERBAL memory, FUNCTIONAL magnetic resonance imaging, COGNITIVE testing, COGNITION, WALKING speed
Abstract

Introduction: CHRFAM7A, a uniquely human fusion gene, has been associated with neuropsychiatric disorders including Alzheimer's disease, schizophrenia, anxiety, and attention deficit disorder. Understanding the physiological function of CHRFAM7A in the human brain is the first step to uncovering its role in disease. CHRFAM7A was identified as a potent modulator of intracellular calcium and an upstream regulator of Rac1 leading to actin cytoskeleton reorganization and a switch from filopodia to lamellipodia implicating a more efficient neuronal structure. We performed a neurocognitive-MRI correlation exploratory study on 46 normal human subjects to explore the effect of CHRFAM7A on human brain. Methods: Dual locus specific genotyping of CHRFAM7A was performed on genomic DNA to determine copy number (TaqMan assay) and orientation (capillary sequencing) of the CHRFAM7A alleles. As only the direct allele is expressed at the protein level and affects a7 nAChR function, direct allele carriers and non-carriers are compared for neuropsychological and MRI measures. Subjects underwent neuropsychological testing to measure motor (Timed 25-foot walk test, 9-hole peg test), cognitive processing speed (Symbol Digit Modalities Test), Learning and memory (California Verbal Learning Test immediate and delayed recall, Brief Visuospatial Memory Test--Revised immediate and delayed recall) and Beck Depression Inventory--Fast Screen, Fatigue Severity Scale. All subjects underwent MRI scanning on the same 3 T GE scanner using the same protocol. Global and tissue-specific volumes were determined using validated cross-sectional algorithms including FSL's Structural Image Evaluation, using Normalization, of Atrophy (SIENAX) and FSL's Integrated Registration and Segmentation Tool (FIRST) on lesion-inpainted images. The cognitive tests were age and years of education-adjusted using analysis of covariance (ANCOVA). Age-adjusted analysis of covariance (ANCOVA) was performed on the MRI data. Results: CHRFAM7A direct allele carrier and non-carrier groups included 33 and 13 individuals, respectively. Demographic variables (age and years of education) were comparable. CHRFAM7A direct allele carriers demonstrated an upward shift in cognitive performance including cognitive processing speed, learning and memory, reaching statistical significance in visual immediate recall (FDR corrected p = 0.018). The shift in cognitive performance was associated with smaller whole brain volume (uncorrected p = 0.046) and lower connectivity by resting state functional MRI in the visual network (FDR corrected p = 0.027) accentuating the cognitive findings. Conclusion: These data suggest that direct allele carriers harbor a more efficient brain consistent with the cellular biology of actin cytoskeleton and synaptic gain of function. Further larger human studies of cognitive measures correlated with MRI and functional imaging are needed to decipher the impact of CHRFAM7A on brain function. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Overcoming Recruitment Challenges and Increasing Representation and Diversity of Participation in Early MCI Clinical Trials: The MIND Study Experience

Author

Lewandowski, Agnes, primary, Newhouse, Paul A, additional, Aisen, Paul S. S, additional, Ismail, Andalib, additional, Andrews, Patricia, additional, Brody, Mark, additional, Goldstein, Mark, additional, Li, Clara, additional, Mintzer, Jacobo E, additional, Scharre, Douglas W., additional, Szigeti, Kinga, additional, Turner, R. Scott, additional, and Raman, Rema, additional

Published
2023
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8. Odorant Item Specific Olfactory Identification Deficit May Differentiate Alzheimer Disease From Aging

Author

Pavlik, Valory, Massman, Paul, Darby, Eveleen, Rodriguear, Monica, Khaleeq Ansari, Aisha, DeToledo, John C., Reddy, Hemachandra, Wilms, Henrick, Johnson, Kim, Perez, Victoria, Fairchild, Thomas, Knebl, Janice, O'Bryant, Sid E., Hall, James R., Johnson, Leigh, Barber, Robert C., Mains, Douglas, Alvarez, Lisa, Cullum, Munro, Rosenberg, Roger, Williams, Benjamin, Quiceno, Mary, Reisch, Joan, Hynan, Linda S., Huebinger, Ryan, Smith, Janet, Nguyen, Trung, Royall, Donald, Palmer, Raymond, Polk, Marsha, Stevens, Alan, Ory, Marcia, Paydarfar, David, Bertelson, John, Woon, Martin, Ayres, Gayle, Aguirre, Alyssa, Wilhelmsen, Kirk C., Tilson, Jeffrey L., Woodward, Matthew R., Hafeez, Muhammad Ubaid, Qi, Qianya, Riaz, Ahmed, Benedict, Ralph H.B., Yan, Li, and Szigeti, Kinga

Published
2018
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20. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Author

McLaughlin, Heather M., Sakaguchi, Reiko, Cuiping Liu, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Zuchner, Stephan, Szigeti, Kinga, Lupski, James R., Ya-Ming Hou, Green, Eric D., and Antonellis, Anthony

Subjects
Charcot-Marie-Tooth disease -- Genetic aspects, Gene mutations -- Analysis, Lysine -- Research, Peripheral nerve diseases -- Research, Transfer RNA -- Research, Biological sciences
Abstract

A large-scale mutation screen of some genes encoding aminoacyl-tRNA synthetases (ARSs) in patients with Charcot-Marie-Tooth (CMT) disease characterized by peripheral neuropathy is undertaken to explore the role of ARSs in CMT disease. Results reveal that multiple mutations of the lysyl-tRNA synthetase (KARS) gene belonging to the ARS gene family, which severely affect related enzyme activity, are found in a single patient with CMT.

Published
2010

21. Preliminary Validation of the Global Neuropsychological Assessment in Alzheimer's Disease and Healthy Volunteers.

Author

Olson, Lauren T., Smerbeck, Alan, Figueroa, Christina M., Raines, Jeremy M., Szigeti, Kinga, Schretlen, David J., and Benedict, Ralph H. B.

Subjects
COGNITION disorders, ALZHEIMER'S disease, WECHSLER Memory Scale, NEUROPSYCHOLOGY, STATISTICAL reliability, RESEARCH evaluation, RESEARCH methodology evaluation, RESEARCH methodology, NEUROPSYCHOLOGICAL tests, MULTITRAIT multimethod techniques, INTRACLASS correlation, DESCRIPTIVE statistics, STATISTICAL correlation
Abstract

Methods: We administered the Global Neuropsychological Assessment (GNA), an abbreviated cognitive battery, to 105 adults aged 73.0 ± 7.1 years, including 28 with probable Alzheimer's disease, 9 with amnestic mild cognitive impairment, and 68 healthy controls. We examined group differences in baseline performance, test–retest reliability, and correlations with other conventional tests. Results: Healthy adults outperformed patients on all five GNA subtests. Test–retest intraclass correlation coefficients were significant for all GNA subtests. Among patients with healthy controls, GNA Story Memory correlated best with Wechsler Memory Scale–Revised (WMS-R) Logical Memory for learning and delayed recall, GNA Digit Span correlated most highly with the Wechsler Adult Intelligence Scale–Third Edition (WAIS-III) Digit Span, GNA Perceptual Comparison correlated most highly with the Trail Making Test, and GNA Animal Naming correlated most highly with Supermarket Item Naming. Conclusions: Preliminary findings suggest that the GNA shows good test–retest validity, clear convergent and discriminant construct validity, and excellent diagnostic criterion validity for dementia and mild cognitive impairment in an American sample. [ABSTRACT FROM AUTHOR]

Published
2022
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24. Long-standing multiple sclerosis neurodegeneration: volumetric MRI comparison to Parkinson’s disease, mild cognitive impairment and Alzheimer’s disease and elderly healthy controls

Author

Jakimovski, Dejan, Bergsland, Niels, Dwyer, Michael G., Hagemeier, Jesper, Ramasamy, Deepa P, Szigeti, Kinga, Guttuso, Thomas, Lichter, David, Hojnacki, David, Weinstock-Guttman, Bianca, Benedict, Ralph HB, and Zivadinov, Robert

Subjects
Aged, 80 and over, Male, Multiple Sclerosis, Brain, Parkinson Disease, Organ Size, Middle Aged, Magnetic Resonance Imaging, Article, Healthy Aging, Thalamus, Alzheimer Disease, Humans, Female, Atrophy, Aged
Abstract

Recent studies show that multiple sclerosis (MS) patients exhibit significant neurodegeneration and brain atrophy-driven disability progression. No direct volumetric comparison between MS and other neurodegenerative diseases has been investigated. We compared the extent of neurodegeneration between long-standing MS, n=112, Parkinson’s disease (PD, n=37), amnestic mild cognitive impairment (aMCI, n=34), Alzheimer’s disease (AD, n=37) and healthy controls (HCs, n=184). On 3T MRI, global and regional brain volumes including whole brain (WBV), white matter (WMV), gray matter (GMV), cortical (CV), deep gray matter (DGM) and nuclei- specific volumes of thalamus, caudate, putamen, globus pallidus, and hippocampus were derived with SIENAX and FIRST software. Analysis of covariance (ANCOVA) adjusted for age- and sex-differences compared MRI-derived volumes. Post-hoc analyses utilizing a subset of age- and sex-matched subjects were conducted. WBV was not significantly different between diseases. MS had significantly lower WMV compared to other disease groups (p

Published
2020

29. CHRFAM7A: A human specific fusion gene, accounts for the translational gap for cholinergic strategies in Alzheimer's disease

Author

Szigeti, Kinga, primary, Ihnatovych, Ivanna, additional, Birkaya, Barbara, additional, Chen, Ziqiang, additional, Ouf, Aya, additional, Indurthi, Dinesh C., additional, Bard, Jonathan E., additional, Kann, Julien, additional, Adams, Alexandrea, additional, Chaves, Lee, additional, Sule, Norbert, additional, Reisch, Joan S., additional, Pavlik, Valory, additional, Benedict, Ralph H.B., additional, Auerbach, Anthony, additional, and Wilding, Gregory, additional

Published
2020
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30. Long-standing Multiple Sclerosis Neurodegeneration: Volumetric MRI Comparison to Parkinson’s Disease, Mild Cognitive Impairment, Alzheimer’s Disease and Elderly Healthy Controls (2393)

Author

Jakimovski, Dejan, primary, Bergsland, Niels, additional, Dwyer, Michael, additional, Hagemeier, Jesper, additional, Ramasamy, Deepa, additional, Szigeti, Kinga, additional, Guttuso, Thomas, additional, Lichter, David, additional, Hojnacki, David, additional, Weinstock-Guttman, Bianca, additional, Benedict, Ralph, additional, and Zivadinov, Robert, additional

Published
2020
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33. MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Author

Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Rasic, Vedrana Milic, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, and Timmerman, Vincent

Published
2006

37. Cognitive Profiles of Aging in Multiple Sclerosis

Author

Jakimovski, Dejan, primary, Weinstock-Guttman, Bianca, additional, Roy, Shumita, additional, Jaworski, Michael, additional, Hancock, Laura, additional, Nizinski, Alissa, additional, Srinivasan, Pavitra, additional, Fuchs, Tom A., additional, Szigeti, Kinga, additional, Zivadinov, Robert, additional, and Benedict, Ralph H. B., additional

Published
2019
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39. Odorant Item Specific Olfactory Identification Deficit May Differentiate Alzheimer Disease From Aging

Author

Woodward, Matthew R., primary, Hafeez, Muhammad Ubaid, additional, Qi, Qianya, additional, Riaz, Ahmed, additional, Benedict, Ralph H.B., additional, Yan, Li, additional, Szigeti, Kinga, additional, Pavlik, Valory, additional, Massman, Paul, additional, Darby, Eveleen, additional, Rodriguear, Monica, additional, Khaleeq Ansari, Aisha, additional, DeToledo, John C., additional, Reddy, Hemachandra, additional, Wilms, Henrick, additional, Johnson, Kim, additional, Perez, Victoria, additional, Fairchild, Thomas, additional, Knebl, Janice, additional, O'Bryant, Sid E., additional, Hall, James R., additional, Johnson, Leigh, additional, Barber, Robert C., additional, Mains, Douglas, additional, Alvarez, Lisa, additional, Cullum, Munro, additional, Rosenberg, Roger, additional, Williams, Benjamin, additional, Quiceno, Mary, additional, Reisch, Joan, additional, Hynan, Linda S., additional, Huebinger, Ryan, additional, Smith, Janet, additional, Nguyen, Trung, additional, Royall, Donald, additional, Palmer, Raymond, additional, Polk, Marsha, additional, Stevens, Alan, additional, Ory, Marcia, additional, Paydarfar, David, additional, Bertelson, John, additional, Woon, Martin, additional, Ayres, Gayle, additional, Aguirre, Alyssa, additional, Wilhelmsen, Kirk C., additional, and Tilson, Jeffrey L., additional

Published
2018
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