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1. Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia

Author

Potashman, Michele, Rudell, Katja, Suminski, Naomi, Doma, Rinchen, Heinrich, Maggie, Abetz-Webb, Linda, Beiner, Melissa Wolfe, Coric, Vlad, Rosenthal, Liana S., Kuo, Sheng-Han, Zesiewicz, Theresa, Fife, Terry D., van de Warrenburg, Bart, Ristori, Giovanni, Synofzik, Matthis, Subramony, Sub, Perlman, Susan, Schmahmann, Jeremy D., and L’Italien, Gil

Published
2025
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2. Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia

Author

Potashman, Michele, Rudell, Katja, Pavisic, Ivanna, Suminski, Naomi, Doma, Rinchen, Heinrich, Maggie, Abetz-Webb, Linda, Beiner, Melissa Wolfe, Kuo, Sheng-Han, Rosenthal, Liana S., Zesiwicz, Theresa, Fife, Terry D., van de Warrenburg, Bart P., Ristori, Giovanni, Synofzik, Matthis, Perlman, Susan, Schmahmann, Jeremy D., and L’Italien, Gilbert

Published
2024
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3. The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias

Author

Selvadurai, Louisa P., Perlman, Susan L., Ashizawa, Tetsuo, Wilmot, George R., Onyike, Chiadi U., Rosenthal, Liana S., Shakkottai, Vikram G., Paulson, Henry L., Subramony, Sub H., Bushara, Khalaf O., Kuo, Sheng-Han, Dietiker, Cameron, Geschwind, Michael D., Nelson, Alexandra B., Gomez, Christopher M., Opal, Puneet, Zesiewicz, Theresa A., Hawkins, Trevor, Yacoubian, Talene A., Nopoulos, Peggy C., Sha, Sharon J., Morrison, Peter E., Figueroa, Karla P., Pulst, Stefan M., and Schmahmann, Jeremy D.

Published
2024
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5. Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies

Author

Reho, Paolo, Saez-Atienzar, Sara, Ruffo, Paola, Solaiman, Sultana, Shah, Zalak, Chia, Ruth, Kaivola, Karri, Traynor, Bryan J., Tilley, Bension S., Gentleman, Steve M., Hodges, Angela K., Aarsland, Dag, Monuki, Edwin S., Newell, Kathy L., Woltjer, Randy, Albert, Marilyn S., Dawson, Ted M., Rosenthal, Liana S., Troncoso, Juan C., Pletnikova, Olga, Serrano, Geidy E., Beach, Thomas G., Easwaran, Hariharan P., and Scholz, Sonja W.

Published
2024
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6. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author

Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L, Collins, Ryan L, Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Jerez, Pilar Alvarez, Malik, Laksh, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Masellis, Mario, Keith, Julia, Black, Sandra E, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Soltis, Anthony R, Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa McGrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N, Adeleye, Adelani, Wilkerson, Matthew D, Pollard, Harvey B, Dalgard, Clifton L, Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, and Gibbs, J Raphael

Subjects
Biological Sciences, Genetics, Brain Disorders, Dementia, ALS, Rare Diseases, Neurodegenerative, Neurosciences, Human Genome, Frontotemporal Dementia (FTD), Alzheimer's Disease, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Aging, Aetiology, 2.1 Biological and endogenous factors, Neurological, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Lewy body dementia, amyotrophic lateral sclerosis, case-control study, frontotemporal dementia, genome-wide association study, non–Alzheimer's dementia, resource, structural variant
Abstract

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.

Published
2023

7. The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Author

Selvadurai, Louisa P, Perlman, Susan L, Wilmot, George R, Subramony, Sub H, Gomez, Christopher M, Ashizawa, Tetsuo, Paulson, Henry L, Onyike, Chiadi U, Rosenthal, Liana S, Sair, Haris I, Kuo, Sheng-Han, Ratai, Eva-Maria, Zesiewicz, Theresa A, Bushara, Khalaf O, Öz, Gülin, Dietiker, Cameron, Geschwind, Michael D, Nelson, Alexandra B, Opal, Puneet, Yacoubian, Talene A, Nopoulos, Peggy C, Shakkottai, Vikram G, Figueroa, Karla P, Pulst, Stefan M, Morrison, Peter E, and Schmahmann, Jeremy D

Subjects
Disease progression, Natural history, Scale for the Assessment and Rating of Ataxia, Spinocerebellar ataxia, Brain Disorders, Clinical Research, Neurosciences, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders, but there is no metric that predicts disease severity over time. We hypothesized that by developing a new metric, the Severity Factor (S-Factor) using immutable disease parameters, it would be possible to capture disease severity independent of clinical rating scales. Extracting data from the CRC-SCA and READISCA natural history studies, we calculated the S-Factor for 438 participants with symptomatic SCA1, SCA2, SCA3, or SCA6, as follows: ((length of CAG repeat expansion - maximum normal repeat length) /maximum normal repeat length) × (current age - age at disease onset) × 10). Within each SCA type, the S-Factor at the first Scale for the Assessment and Rating of Ataxia (SARA) visit (baseline) was correlated against scores on SARA and other motor and cognitive assessments. In 281 participants with longitudinal data, the slope of the S-Factor over time was correlated against slopes of scores on SARA and other motor rating scales. At baseline, the S-Factor showed moderate-to-strong correlations with SARA and other motor rating scales at the group level, but not with cognitive performance. Longitudinally the S-Factor slope showed no consistent association with the slope of performance on motor scales. Approximately 30% of SARA slopes reflected a trend of non-progression in motor symptoms. The S-Factor is an observer-independent metric of disease burden in SCAs. It may be useful at the group level to compare cohorts at baseline in clinical studies. Derivation and examination of the S-factor highlighted challenges in the use of clinical rating scales in this population.

Published
2022

8. The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications

Author

Selvadurai, Louisa P., Perlman, Susan L., Wilmot, George R., Subramony, Sub H., Gomez, Christopher M., Ashizawa, Tetsuo, Paulson, Henry L., Onyike, Chiadi U., Rosenthal, Liana S., Sair, Haris I., Kuo, Sheng-Han, Ratai, Eva-Maria, Zesiewicz, Theresa A., Bushara, Khalaf O., Öz, Gülin, Dietiker, Cameron, Geschwind, Michael D., Nelson, Alexandra B., Opal, Puneet, Yacoubian, Talene A., Nopoulos, Peggy C., Shakkottai, Vikram G., Figueroa, Karla P., Pulst, Stefan M., Morrison, Peter E., and Schmahmann, Jeremy D.

Published
2023
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9. Genome sequence analyses identify novel risk loci for multiple system atrophy

Author

Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W., Traynor, Bryan J., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, and Scholz, Sonja W.

Published
2024
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10. Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.

Author

Kaivola, Karri, Shah, Zalak, Chia, Ruth, Black, Sandra E, Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Albert, Marilyn S, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dalgard, Clifton L, Dawson, Ted M, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, Gibbs, J Raphael, Goate, Alison, Goldstein, David S, Graff-Radford, Neill R, Kaufmann, Horacio, Kukull, Walter A, Leverenz, James B, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L, Palma, Jose Alberto, Pletnikova, Olga, Renton, Alan E, Resnick, Susan M, Rosenthal, Liana S, Ross, Owen A, Scherzer, Clemens R, Serrano, Geidy E, Shakkottai, Vikram G, Sidransky, Ellen, Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Troncoso, Juan C, Woltjer, Randy, Wszolek, Zbigniew K, and Scholz, Sonja W

Subjects
Genetics, Lewy Body Dementia, Neurodegenerative, Aging, Brain Disorders, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Alzheimer's Disease, Acquired Cognitive Impairment, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Alzheimer Disease, Apolipoprotein E4, Genome-Wide Association Study, Humans, Lewy Body Disease, alpha-Synuclein, International LBD Genomics Consortium, APOE, Alzheimer’s disease, co-pathology, dementia with Lewy bodies, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The APOE locus is strongly associated with risk for developing Alzheimer's disease and dementia with Lewy bodies. In particular, the role of the APOE ε4 allele as a putative driver of α-synuclein pathology is a topic of intense debate. Here, we performed a comprehensive evaluation in 2466 dementia with Lewy bodies cases versus 2928 neurologically healthy, aged controls. Using an APOE-stratified genome-wide association study approach, we found that GBA is associated with risk for dementia with Lewy bodies in patients without APOE ε4 (P = 6.58 × 10-9, OR = 3.41, 95% CI = 2.25-5.17), but not with dementia with Lewy bodies with APOE ε4 (P = 0.034, OR = 1.87, 95%, 95% CI = 1.05-3.37). We then divided 495 neuropathologically examined dementia with Lewy bodies cases into three groups based on the extent of concomitant Alzheimer's disease co-pathology: pure dementia with Lewy bodies (n = 88), dementia with Lewy bodies with intermediate Alzheimer's disease co-pathology (n = 66) and dementia with Lewy bodies with high Alzheimer's disease co-pathology (n = 341). In each group, we tested the association of the APOE ε4 against the 2928 neurologically healthy controls. Our examination found that APOE ε4 was associated with dementia with Lewy bodies + Alzheimer's disease (P = 1.29 × 10-32, OR = 4.25, 95% CI = 3.35-5.39) and dementia with Lewy bodies + intermediate Alzheimer's disease (P = 0.0011, OR = 2.31, 95% CI = 1.40-3.83), but not with pure dementia with Lewy bodies (P = 0.31, OR = 0.75, 95% CI = 0.43-1.30). In conclusion, although deep clinical data were not available for these samples, our findings do not support the notion that APOE ε4 is an independent driver of α-synuclein pathology in pure dementia with Lewy bodies, but rather implicate GBA as the main risk gene for the pure dementia with Lewy bodies subgroup.

Published
2022

11. Fluid and Tissue Biomarkers of Lewy Body Dementia: Report of an LBDA Symposium

Author

Scott, Gregory D, Arnold, Moriah R, Beach, Thomas G, Gibbons, Christopher H, Kanthasamy, Anumantha G, Lebovitz, Russell M, Lemstra, Afina W, Shaw, Leslie M, Teunissen, Charlotte E, Zetterberg, Henrik, Taylor, Angela S, Graham, Todd C, Boeve, Bradley F, Gomperts, Stephen N, Graff-Radford, Neill R, Moussa, Charbel, Poston, Kathleen L, Rosenthal, Liana S, Sabbagh, Marwan N, Walsh, Ryan R, Weber, Miriam T, Armstrong, Melissa J, Bang, Jee A, Bozoki, Andrea C, Domoto-Reilly, Kimiko, Duda, John E, Fleisher, Jori E, Galasko, Douglas R, Galvin, James E, Goldman, Jennifer G, Holden, Samantha K, Honig, Lawrence S, Huddleston, Daniel E, Leverenz, James B, Litvan, Irene, Manning, Carol A, Marder, Karen S, Pantelyat, Alexander Y, Pelak, Victoria S, Scharre, Douglas W, Sha, Sharon J, Shill, Holly A, Mari, Zoltan, Quinn, Joseph F, and Irwin, David J

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Aging, Dementia, Brain Disorders, Acquired Cognitive Impairment, Lewy Body Dementia, Parkinson's Disease, Neurodegenerative, Neurological, cerebrospinal fluid, alpha-synuclein, skin biopsy, seeded aggregation assays, tau, amyloid, Lewy body dementia, LBDA biomarker symposium, Clinical sciences, Biological psychology
Abstract

The Lewy Body Dementia Association (LBDA) held a virtual event, the LBDA Biofluid/Tissue Biomarker Symposium, on January 25, 2021, to present advances in biomarkers for Lewy body dementia (LBD), which includes dementia with Lewy bodies (DLBs) and Parkinson's disease dementia (PDD). The meeting featured eight internationally known scientists from Europe and the United States and attracted over 200 scientists and physicians from academic centers, the National Institutes of Health, and the pharmaceutical industry. Methods for confirming and quantifying the presence of Lewy body and Alzheimer's pathology and novel biomarkers were discussed.

Published
2022

12. Semantic fluency and processing speed are reduced in non-cognitively impaired participants with Parkinson’s disease

Author

Cholerton, Brenna A, Poston, Kathleen L, Yang, Laurice, Rosenthal, Liana S, Dawson, Ted M, Pantelyat, Alexander, Edwards, Karen L, Tian, Lu, Quinn, Joseph F, Chung, Kathryn A, Hiller, Amie L, Hu, Shu-Ching, Montine, Thomas J, and Zabetian, Cyrus P

Subjects
Biological Psychology, Psychology, Acquired Cognitive Impairment, Neurosciences, Behavioral and Social Science, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurodegenerative, Clinical Trials and Supportive Activities, Parkinson's Disease, Brain Disorders, Aging, Neurological, Cognition, Cognitive Dysfunction, Humans, Neuropsychological Tests, Parkinson Disease, Semantics, cognition, healthy volunteers, neuropsychological assessment, Parkinson's disease, Parkinson’s disease, Cognitive Sciences, Experimental Psychology, Biological psychology, Clinical and health psychology, Cognitive and computational psychology
Abstract

Introduction: Parkinson's disease (PD) is associated with a range of cognitive deficits. Few studies have carefully examined the subtle impacts of PD on cognition among patients who do not meet formal criteria for MCI or dementia. The aim of the current study was thus to describe the impact of PD on cognition in those without cognitive impairment in a well-characterized cohort.Methods: Non-cognitively impaired participants (122 with PD, 122 age- and sex-matched healthy volunteers) underwent extensive cognitive testing. Linear regression analyses compared diagnostic group performance across cognitive measures. For cognitive tasks that were significantly different between groups, additional analyses examined group differences restricting the group inclusion to PD participants with mild motor symptoms or disease duration less than 10 years.Results: Processing speed and semantic verbal fluency were significantly lower in the PD group (B = -3.77, 95% CIs [-5.76 to -1.77], p

Published
2021

13. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author

Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, Logroscino, Giancarlo, and Serrano, Geidy E

Subjects
Biological Sciences, Genetics, Human Genome, Alzheimer's Disease Related Dementias (ADRD), Prevention, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Aging, Dementia, Brain Disorders, Acquired Cognitive Impairment, Lewy Body Dementia, Biotechnology, Parkinson's Disease, Neurosciences, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adaptor Proteins, Signal Transducing, Alzheimer Disease, Case-Control Studies, Gene Expression Profiling, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Glucosylceramidase, Humans, Lewy Body Disease, Nuclear Proteins, Parkinson Disease, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, alpha-Synuclein, American Genome Center, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.

Published
2021

14. Neuropsychiatric symptoms and cognitive abilities over the initial quinquennium of Parkinson disease.

Author

Weintraub, Daniel, Caspell-Garcia, Chelsea, Simuni, Tanya, Cho, Hyunkeun R, Coffey, Christopher S, Aarsland, Dag, Alcalay, Roy N, Barrett, Matthew J, Chahine, Lana M, Eberling, Jamie, Espay, Alberto J, Hamilton, Jamie, Hawkins, Keith A, Leverenz, James, Litvan, Irene, Richard, Irene, Rosenthal, Liana S, Siderowf, Andrew, York, Michele, and Parkinson’s Progression Markers Initiative

Subjects
Parkinson’s Progression Markers Initiative, Humans, Parkinson Disease, Disease Progression, Prevalence, Longitudinal Studies, Behavioral Symptoms, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Cognitive Dysfunction, Clinical Sciences, Neurosciences
Abstract

ObjectiveTo determine the evolution of numerous neuropsychiatric symptoms and cognitive abilities in Parkinson disease from disease onset.MethodsProspectively collected, longitudinal (untreated, disease onset to year 5), observational data from Parkinson's Progression Markers Initiative annual visits was used to evaluate prevalence, correlates, and treatment of 10 neuropsychiatric symptoms and cognitive impairment in Parkinson disease participants and matched healthy controls.ResultsOf 423 Parkinson disease participants evaluated at baseline, 315 (74.5%) were assessed at year 5. Eight neuropsychiatric symptoms studied increased in absolute prevalence by 6.2-20.9% at year 5 relative to baseline, and cognitive impairment increased by 2.7-6.2%. In comparison, the frequency of neuropsychiatric symptoms in healthy controls remained stable or declined over time. Antidepressant and anxiolytic/hypnotic use in Parkinson disease were common at baseline and increased over time (18% to 27% for the former; 13% to 24% for the latter); antipsychotic and cognitive-enhancing medication use was uncommon throughout (2% and 5% of patients at year 5); and potentially harmful anticholinergic medication use was common and increased over time. At year 5 the cross-sectional prevalence for having three or more neuropsychiatric disorders/cognitive impairment was 56% for Parkinson disease participants versus 13% for healthy controls, and by then seven of the examined disorders had either occurred or been treated at some time point in the majority of Parkinson disease patients. Principal component analysis suggested an affective disorder subtype only.InterpretationNeuropsychiatric features in Parkinson disease are common from the onset, increase over time, are frequently comorbid, and fluctuate in severity.

Published
2020

15. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author

Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, and De Jager, Philip L.

Published
2023
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17. Lewy Body Dementia Association’s Research Centers of Excellence Program: Inaugural Meeting Proceedings

Author

Peterson, Bethany, Armstrong, Melissa, Galasko, Douglas, Galvin, James E, Goldman, Jennifer, Irwin, David, Paulson, Henry, Kaufer, Daniel, Leverenz, James, Lunde, Angela, McKeith, Ian G, Siderowf, Andrew, Taylor, Angela, Amodeo, Katherine, Barrett, Matt, Domoto-Reilly, Kimiko, Duda, John, Gomperts, Stephen, Graff-Radford, Neill, Holden, Samantha, Honig, Lawrence, Huddleston, Daniel, Lippa, Carol, Litvan, Irene, Manning, Carol, Marder, Karen, Moussa, Charbel, Onyike, Chiadi, Pagan, Fernando, Pantelyat, Alexander, Pelak, Victoria, Poston, Kathleen, Quinn, Joseph, Richard, Irene, Rosenthal, Liana S, Sabbagh, Marwan, Scharre, Douglas, Sha, Sharon, Shill, Holly, Torres-Yaghi, Yasar, Christie, Tina, Graham, Todd, Richards, Ian, Koehler, Mike, and Boeve, Brad

Subjects
Health Services and Systems, Health Sciences, Dementia, Alzheimer's Disease, Prevention, Brain Disorders, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Parkinson's Disease, Alzheimer's Disease Related Dementias (ADRD), Clinical Research, Aging, Acquired Cognitive Impairment, Lewy Body Dementia, Neurological, Biomedical Research, Clinical Trials as Topic, Congresses as Topic, Humans, Lewy Body Disease, New Orleans, Lewy body dementia, Lewy Body Dementia Association, Parkinson's disease dementia, Parkinson’s disease dementia, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract

The first Lewy Body Dementia Association (LBDA) Research Centers of Excellence (RCOE) Investigator's meeting was held on December 14, 2017, in New Orleans. The program was established to increase patient access to clinical experts on Lewy body dementia (LBD), which includes dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD), and to create a clinical trials-ready network. Four working groups (WG) were created to pursue the LBDA RCOE aims: (1) increase access to high-quality clinical care, (2) increase access to support for people living with LBD and their caregivers, (3) increase knowledge of LBD among medical and allied (or other) professionals, and (4) create infrastructure for a clinical trials-ready network as well as resources to advance the study of new therapeutics.

Published
2019

19. Sex differences in progression to mild cognitive impairment and dementia in Parkinson's disease

Author

Cholerton, Brenna, Johnson, Catherine O, Fish, Brian, Quinn, Joseph F, Chung, Kathryn A, Peterson-Hiller, Amie L, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Hu, Shu-Ching, Mata, Ignacio F, Leverenz, James B, Poston, Kathleen L, Montine, Thomas J, Zabetian, Cyrus P, and Edwards, Karen L

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Aging, Parkinson's Disease, Neurodegenerative, Dementia, Behavioral and Social Science, Acquired Cognitive Impairment, Clinical Research, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Neurosciences, Neurological, Adult, Aged, Aged, 80 and over, Cognitive Dysfunction, Disease Progression, Female, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease, Sex Characteristics, Sex Factors, Parkinson's disease, Cognition, Mild cognitive impairment, Sex differences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology
Abstract

INTRODUCTION:Identification of factors associated with progression of cognitive symptoms in Parkinson's disease (PD) is important for treatment planning, clinical care, and design of future clinical trials. The current study sought to identify whether prediction of cognitive progression is aided by examining baseline cognitive features, and whether this differs according to stage of cognitive disease. METHODS:Participants with PD in the Pacific Udall Center Clinical Consortium who had longitudinal data available and were nondemented at baseline were included in the study (n = 418). Logistic and Cox regression models were utilized to examine the relationship between cognitive, demographic, and clinical variables with risk and time to progression from no cognitive impairment to mild cognitive impairment (PD-MCI) or dementia (PDD), and from PD-MCI to PDD. RESULTS:Processing speed (OR = 1.05, p = 0.009) and working memory (OR = 1.01, p = 0.03) were associated with conversion to PDD among those with PD-MCI at baseline, over and above demographic variables. Conversely, the primary predictive factor in the transition from no cognitive impairment to PD-MCI or PDD was male sex (OR = 4.47, p = 0.004), and males progressed more rapidly than females (p = 0.01). Further, among females with shorter disease duration, progression was slower than for their male counterparts, and poor baseline performance on semantic verbal fluency was associated with shorter time to cognitive impairment in females but not in males. CONCLUSIONS:This study provides evidence for sex differences in the progression to cognitive impairment in PD, while specific cognitive features become more important indicators of progression with impending conversion to PDD.

Published
2018

21. Brainstem Pathologies Correlate With Depression and Psychosis in Parkinson's Disease

Author

Fischer, Nicole Mercado, Hinkle, Jared T., Perepezko, Kate, Bakker, Catherine C., Morris, Meaghan, Broen, Martinus P.G., Butala, Ankur, Dawson, Ted M., Leentjens, Albert F.G., Mari, Zoltan, Marvel, Cherie L., Mills, Kelly A., Rosenthal, Liana S., Shepard, Melissa D., Pantelyat, Alexander, Bakker, Arnold, Pletnikova, Olga, Troncoso, Juan C., Wang, Jiangxia, and Pontone, Gregory M.

Published
2021
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23. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Author

Mok, Kin Y., Murphy, David P., Al-Sarraj, Safa, Troakes, Claire, Gentleman, Steve M., Allinson, Kieren S.J., Jaunmuktane, Zane, Holton, Janice L., Lees, Andrew J., Morris, Christopher M., Compta, Yaroslau, Gelpi, Ellen, van Swieten, John C., Rajput, Alex, Ferguson, Leslie, Cookson, Mark R., Gibbs, J. Raphael, Blauwendraat, Cornelis, Ding, Jinhui, Chia, Ruth, Traynor, Bryan J., Pantelyat, Alexander, Viollet, Coralie, Pletnikova, Olga, Troncoso, Juan C., Rosenthal, Liana S., Boxer, Adam L., Respondek, Gesine, Arzberger, Thomas, Roeber, Sigrun, Giese, Armin, Burn, David J., Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P. Nigel, Church, Alistair, T.M. Hu, Michele, Jabbari, Edwin, Koga, Shunsuke, Valentino, Rebecca R, Reynolds, Regina H, Ferrari, Raffaele, Tan, Manuela M X, Rowe, James B, Dalgard, Clifton L, Scholz, Sonja W, Dickson, Dennis W, Warner, Thomas T, Revesz, Tamas, Höglinger, Günter U, Ross, Owen A, Ryten, Mina, Hardy, John, Shoai, Maryam, and Morris, Huw R

Published
2021
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25. Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Author

Yang, Chen-Ya, Lai, Ruo-Yah, Amokrane, Nadia, Lin, Chi-Ying, Figueroa, Karla P., Pulst, Stefan M., Perlman, Susan, Wilmot, George, Gomez, Christopher M., Schmahmann, Jeremy D., Paulson, Henry, Shakkottai, Vikram G., Rosenthal, Liana S., Ying, Sarah H., Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S.H., Ashizawa, Tetsuo, Troche, Michelle S., and Kuo, Sheng-Han

Published
2020
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29. Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

Author

Davis, Marie Y, Johnson, Catherine O, Leverenz, James B, Weintraub, Daniel, Trojanowski, John Q, Chen-Plotkin, Alice, Van Deerlin, Vivianna M, Quinn, Joseph F, Chung, Kathryn A, Peterson-Hiller, Amie L, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Goldman, Jennifer G, Stebbins, Glenn T, Bernard, Bryan, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Eidelberg, David, Mattis, Paul J, Niethammer, Martin, Yearout, Dora, Hu, Shu-Ching, Cholerton, Brenna A, Smith, Megan, Mata, Ignacio F, Montine, Thomas J, Edwards, Karen L, and Zabetian, Cyrus P

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Dementia, Alzheimer's Disease Related Dementias (ADRD), Genetics, Aging, Acquired Cognitive Impairment, Clinical Research, Parkinson's Disease, Brain Disorders, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Neurological, Aged, Cognitive Dysfunction, Disease Progression, Female, Glucosylceramidase, Humans, Longitudinal Studies, Male, Middle Aged, Mutation, Parkinson Disease, Polymorphism, Genetic
Abstract

ImportanceParkinson disease (PD) is heterogeneous in symptom manifestation and rate of progression. Identifying factors that influence disease progression could provide mechanistic insight, improve prognostic accuracy, and elucidate novel therapeutic targets.ObjectiveTo determine whether GBA mutations and the E326K polymorphism modify PD symptom progression.Design, setting, and participantsThe entire GBA coding region was screened for mutations and E326K in 740 patients with PD enrolled at 7 sites from the PD Cognitive Genetics Consortium. Detailed longitudinal motor and cognitive assessments were performed with patients in the on state.Main outcomes and measuresLinear regression was used to test for an association between GBA genotype and motor progression, with the Movement Disorder Society-sponsored version of the Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS III) score at the last assessment as the outcome and GBA genotype as the independent variable, with adjustment for levodopa equivalent dose, sex, age, disease duration, MDS-UPDRS III score at the first assessment, duration of follow-up, and site. Similar methods were used to examine the association between genotype and tremor and postural instability and gait difficulty (PIGD) scores. To examine the effect of GBA genotype on cognitive progression, patients were classified into those with conversion to mild cognitive impairment or dementia during the study (progression) and those without progression. The association between GBA genotype and progression status was then tested using logistic regression, adjusting for sex, age, disease duration, duration of follow-up, years of education, and site.ResultsOf the total sample of 733 patients who underwent successful genotyping, 226 (30.8%) were women and 507 (69.2%) were men (mean [SD] age, 68.1 [8.8] years). The mean (SD) duration of follow-up was 3.0 (1.7) years. GBA mutations (β = 4.65; 95% CI, 1.72-7.58; P = .002), E326K (β = 3.42; 95% CI, 0.66-6.17; P = .02), and GBA variants combined as a single group (β = 4.01; 95% CI, 1.95-6.07; P = 1.5 × 10-4) were associated with a more rapid decline in MDS-UPDRS III score. Combined GBA variants (β = 0.38; 95% CI, 0.23-0.53; P = .01) and E326K (β = 0.64; 95% CI, 0.43-0.86; P = .002) were associated with faster progression in PIGD scores, but not in tremor scores. A significantly higher proportion of E326K carriers (10 of 21 [47.6%]; P = .01) and GBA variant carriers (15 of 39 [38.5%]; P = .04) progressed to mild cognitive impairment or dementia.Conclusions and relevanceGBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor. Thus, GBA variants influence the heterogeneity in symptom progression observed in PD.

Published
2016

30. GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease

Author

Mata, Ignacio F, Leverenz, James B, Weintraub, Daniel, Trojanowski, John Q, Chen-Plotkin, Alice, Van Deerlin, Vivianna M, Ritz, Beate, Rausch, Rebecca, Factor, Stewart A, Wood-Siverio, Cathy, Quinn, Joseph F, Chung, Kathryn A, Peterson-Hiller, Amie L, Goldman, Jennifer G, Stebbins, Glenn T, Bernard, Bryan, Espay, Alberto J, Revilla, Fredy J, Devoto, Johnna, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Tsuang, Debby, Huston, Haley, Yearout, Dora, Hu, Shu-Ching, Cholerton, Brenna A, Montine, Thomas J, Edwards, Karen L, and Zabetian, Cyrus P

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Parkinson's Disease, Mental Health, Behavioral and Social Science, Dementia, Aging, Clinical Research, Basic Behavioral and Social Science, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Genetics, Brain Disorders, Acquired Cognitive Impairment, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, Aged, Cognition Disorders, Female, Genetic Association Studies, Genotype, Glucosylceramidase, Humans, Male, Middle Aged, Neuropsychological Tests, Parkinson Disease, Polymorphism, Single Nucleotide, Severity of Illness Index, United States, cognition, GBA, neuropsychological tests, visuospatial, working memory, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundLoss-of-function mutations in the GBA gene are associated with more severe cognitive impairment in PD, but the nature of these deficits is not well understood and whether common GBA polymorphisms influence cognitive performance in PD is not yet known.MethodsWe screened the GBA coding region for mutations and the E326K polymorphism in 1,369 PD patients enrolled at eight sites from the PD Cognitive Genetics Consortium. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised), working memory/executive function (Letter-Number Sequencing Test and Trail Making Test A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation), and global cognitive function (MoCA). We used linear regression to test for association between genotype and cognitive performance with adjustment for important covariates and accounted for multiple testing using Bonferroni's corrections.ResultsMutation carriers (n = 60; 4.4%) and E326K carriers (n = 65; 4.7%) had a higher prevalence of dementia (mutations, odds ratio = 5.1; P = 9.7 × 10(-6) ; E326K, odds ratio = 6.4; P = 5.7 × 10(-7) ) and lower performance on Letter-Number Sequencing (mutations, corrected P[Pc ] = 9.0 × 10(-4) ; E326K, Pc  = 0.036), Trail Making B-A (mutations, Pc  = 0.018; E326K, Pc  = 0.018), and Benton Judgment of Line Orientation (mutations, Pc  = 0.0045; E326K, Pc  = 0.0013).ConclusionsBoth GBA mutations and E326K are associated with a distinct cognitive profile characterized by greater impairment in working memory/executive function and visuospatial abilities in PD patients. The discovery that E326K negatively impacts cognitive performance approximately doubles the proportion of PD patients we now recognize are at risk for more severe GBA-related cognitive deficits.

Published
2016

31. Cognitive profile of LRRK2-related Parkinson's disease.

Author

Srivatsal, Sindhu, Cholerton, Brenna, Leverenz, James B, Wszolek, Zbigniew K, Uitti, Ryan J, Dickson, Dennis W, Weintraub, Daniel, Trojanowski, John Q, Van Deerlin, Vivianna M, Quinn, Joseph F, Chung, Kathryn A, Peterson, Amie L, Factor, Stewart A, Wood-Siverio, Cathy, Goldman, Jennifer G, Stebbins, Glenn T, Bernard, Bryan, Ritz, Beate, Rausch, Rebecca, Espay, Alberto J, Revilla, Fredy J, Devoto, Johnna, Rosenthal, Liana S, Dawson, Ted M, Albert, Marilyn S, Mata, Ignacio F, Hu, Shu-Ching, Montine, Kathleen S, Johnson, Catherine, Montine, Thomas J, Edwards, Karen L, Zhang, Jing, and Zabetian, Cyrus P

Subjects
Humans, Parkinson Disease, Cohort Studies, Cross-Sectional Studies, Cognition Disorders, Mental Status Schedule, Neuropsychological Tests, Mutation, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Protein Serine-Threonine Kinases, LRRK2, Parkinson's disease, cognition, neuropsychological tests, working memory, Genetic Testing, Genetics, Acquired Cognitive Impairment, Neurosciences, Dementia, Parkinson's Disease, Brain Disorders, Aging, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

BackgroundIncreasing evidence suggests that genetic factors play a role in the variability associated with cognitive performance in Parkinson's disease (PD). Mutations in the LRRK2 gene are the most common cause of monogenic PD; however, the cognitive profile of LRRK2-related PD is not well-characterized.MethodsA cohort of 1,447 PD patients enrolled in the PD Cognitive Genetics Consortium was screened for LRRK2 mutations and completed detailed cognitive testing. Associations between mutation carrier status and cognitive test scores were assessed using linear regression models.ResultsLRRK2 mutation carriers (n = 29) demonstrated better performance on the Mini Mental State Examination (P = 0.03) and the Letter-Number Sequencing Test (P = 0.005). A smaller proportion of LRRK2 carriers were demented (P = 0.03).ConclusionsOur cross-sectional study demonstrates better performance on certain cognitive tests, as well as lower rates of dementia in LRRK2-related PD. Future longitudinal studies are needed to determine whether LRRK2 mutation carriers exhibit slower cognitive decline. © 2015 International Parkinson and Movement Disorder Society.

Published
2015

32. Assessment of APOE in atypical parkinsonism syndromes

Author

Sabir, Marya S., Blauwendraat, Cornelis, Ahmed, Sarah, Serrano, Geidy E., Beach, Thomas G., Perkins, Matthew, Rice, Ann C., Masliah, Eliezer, Morris, Christopher M., Pihlstrom, Lasse, Pantelyat, Alexander, Resnick, Susan M., Cookson, Mark R., Hernandez, Dena G., Albert, Marilyn, Dawson, Ted M., Rosenthal, Liana S., Houlden, Henry, Pletnikova, Olga, Troncoso, Juan, and Scholz, Sonja W.

Published
2019
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33. Digital Measures of Postural Sway Quantify Balance Deficits in Spinocerebellar Ataxia

Author

Shah, Vrutangkumar V., primary, Muzyka, Daniel, additional, Jagodinsky, Adam, additional, McNames, James, additional, Casey, Hannah, additional, El‐Gohary, Mahmoud, additional, Sowalsky, Kristen, additional, Safarpour, Delaram, additional, Carlson‐Kuhta, Patricia, additional, Schmahmann, Jeremy D., additional, Rosenthal, Liana S., additional, Perlman, Susan, additional, Horak, Fay B., additional, and Gomez, Christopher M., additional

Published
2024
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35. Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson’s disease

Author

Kam, Tae-In, Mao, Xiaobo, Park, Hyejin, Chou, Shih-Ching, Karuppagounder, Senthilkumar S., Umanah, George Essien, Yun, Seung Pil, Brahmachari, Saurav, Panicker, Nikhil, Chen, Rong, Andrabi, Shaida A., Qi, Chen, Poirier, Guy G., Pletnikova, Olga, Troncoso, Juan C., Bekris, Lynn M., Leverenz, James B., Pantelyat, Alexander, Ko, Han Seok, Rosenthal, Liana S., Dawson, Ted M., and Dawson, Valina L.

Published
2018

37. Markers of impaired motor and cognitive volition in Parkinson's disease: Correlates of dopamine dysregulation syndrome, impulse control disorder, and dyskinesias

Author

Hinkle, Jared T., Perepezko, Kate, Rosenthal, Liana S., Mills, Kelly A., Pantelyat, Alexander, Mari, Zoltan, Tochen, Laura, Bang, Jee Yun, Gudavalli, Medha, Yoritomo, Nadine, Butala, Ankur, Bakker, Catherine C., Johnson, Vanessa, Moukheiber, Emile, Dawson, Ted M., and Pontone, Gregory M.

Published
2018
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39. The Cerebellar Cognitive Affective / Schmahmann Syndrome Scale in Spinocerebellar Ataxias

Author

Selvadurai, Louisa P., primary, Perlman, Susan L., additional, Ashizawa, Tetsuo, additional, Wilmot, George R., additional, Onyike, Chiadi U., additional, Rosenthal, Liana S., additional, Shakkottai, Vikram G., additional, Paulsen, Henry L., additional, Subramony, Sub H., additional, Bushara, Khalaf O., additional, Kuo, Sheng-Han, additional, Dietiker, Cameron, additional, Geschwind, Michael D., additional, Nelson, Alexandra B., additional, Gomez, Christopher M., additional, Opal, Puneet, additional, Zesiewicz, Theresa A., additional, Hawkins, Trevor, additional, Yacoubian, Talene A., additional, Nopoulos, Peggy C., additional, Sha, Sharon J., additional, Morrison, Peter E., additional, Figueroa, Karla P., additional, Pulst, Stefan M., additional, and Schmahmann, Jeremy D., additional

Published
2023
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40. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants

Author

Allen, James P, primary, Garber, Kathryn B, additional, Perszyk, Riley, additional, Khayat, Cara T, additional, Kell, Steven A, additional, Kaneko, Maki, additional, Quindipan, Catherine, additional, Saitta, Sulagna, additional, Ladda, Roger L, additional, Hewson, Stacy, additional, Inbar-Feigenberg, Michal, additional, Prasad, Chitra, additional, Prasad, Asuri N, additional, Olewiler, Leah, additional, Mu, Weiyi, additional, Rosenthal, Liana S, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Zara, Federico, additional, McCullock, Tyler W, additional, Jauss, Robin-Tobias, additional, Lemke, Johannes R, additional, MacLean, David M, additional, Zhu, Cheng, additional, Yuan, Hongjie, additional, Myers, Scott J, additional, and Traynelis, Stephen F, additional

Published
2023
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44. Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia.

Author

Casey, Hannah L., Shah, Vrutangkumar V., Muzyka, Daniel, McNames, James, El‐Gohary, Mahmoud, Sowalsky, Kristen, Safarpour, Delaram, Carlson‐Kuhta, Patricia, Schmahmann, Jeremy D., Rosenthal, Liana S., Perlman, Susan, Rummey, Christian, Horak, Fay B., and Gomez, Christopher M.

Abstract

Background: Progressive loss of standing balance is a feature of Friedreich's ataxia (FRDA). Objectives: This study aimed to identify standing balance conditions and digital postural sway measures that best discriminate between FRDA and healthy controls (HC). We assessed test–retest reliability and correlations between sway measures and clinical scores. Methods: Twenty‐eight subjects with FRDA and 20 HC completed six standing conditions: feet apart, feet together, and feet tandem, both with eyes opened (EO) and eyes closed. Sway was measured using a wearable sensor on the lumbar spine for 30 seconds. Test completion rate, test–retest reliability with intraclass correlation coefficients, and areas under the receiver operating characteristic curves (AUCs) for each measure were compared to identify distinguishable FRDA sway characteristics from HC. Pearson correlations were used to evaluate the relationships between discriminative measures and clinical scores. Results: Three of the six standing conditions had completion rates over 70%. Of these three conditions, natural stance and feet together with EO showed the greatest completion rates. All six of the sway measures' mean values were significantly different between FRDA and HC. Four of these six measures discriminated between groups with >0.9 AUC in all three conditions. The Friedreich Ataxia Rating Scale Upright Stability and Total scores correlated with sway measures with P‐values <0.05 and r‐values (0.63–0.86) and (0.65–0.81), respectively. Conclusion: Digital postural sway measures using wearable sensors are discriminative and reliable for assessing standing balance in individuals with FRDA. Natural stance and feet together stance with EO conditions suggest use in clinical trials for FRDA. © 2024 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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49. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Luxembourg Institute of Health - LIH [research center], Fonds National de la Recherche - FnR [sponsor], Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Masellis, Mario, Keith, Julia, Black, Sandra E., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M., Ghetti, Bernardino, Landers, John E., Ryten, Mina, Morris, Huw R., Hardy, John A., Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E., Beach, Thomas G., Ferman, Tanis, Graff-Radford, Neill R., Boeve, Bradley F., Wszolek, Zbigniew K., Dickson, Dennis W., Chiò, Adriano, Bennett, David A., De Jager, Philip L., Ross, Owen A., Dalgard, Clifton L., Gibbs, J. Raphael, Traynor, Bryan J., Scholz, Sonja W., Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Rejko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Palmer, Laura, Pickering-Brown, Stuart, Thomas, Alan J., Troakes, Claire, Barrett, Matthew J., Bekris, Lynn M., Faber, Kelley, Flanagan, Margaret E., Goate, Alison, Goldstein, David S., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Renton, Alan E., Scherzer, Clemens R., Shakkottai, Vikram G., Sidransky, Ellen, Tayebi, Nahid, Woltjer, Randy, Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Luxembourg Institute of Health - LIH [research center], Fonds National de la Recherche - FnR [sponsor], Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Masellis, Mario, Keith, Julia, Black, Sandra E., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M., Ghetti, Bernardino, Landers, John E., Ryten, Mina, Morris, Huw R., Hardy, John A., Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E., Beach, Thomas G., Ferman, Tanis, Graff-Radford, Neill R., Boeve, Bradley F., Wszolek, Zbigniew K., Dickson, Dennis W., Chiò, Adriano, Bennett, David A., De Jager, Philip L., Ross, Owen A., Dalgard, Clifton L., Gibbs, J. Raphael, Traynor, Bryan J., Scholz, Sonja W., Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Rejko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Palmer, Laura, Pickering-Brown, Stuart, Thomas, Alan J., Troakes, Claire, Barrett, Matthew J., Bekris, Lynn M., Faber, Kelley, Flanagan, Margaret E., Goate, Alison, Goldstein, David S., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Renton, Alan E., Scherzer, Clemens R., Shakkottai, Vikram G., Sidransky, Ellen, Tayebi, Nahid, Woltjer, Randy, Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, and Zinman, Lorne

Abstract

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.

Published
2023

50. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

Author

Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, and McCullock, Tyler W

Published
2024
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