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2. A biological definition of neuronal α-synuclein disease: towards an integrated staging system for research

Author

Simuni, Tanya, Chahine, Lana M, Poston, Kathleen, Brumm, Michael, Buracchio, Teresa, Campbell, Michelle, Chowdhury, Sohini, Coffey, Christopher, Concha-Marambio, Luis, Dam, Tien, DiBiaso, Peter, Foroud, Tatiana, Frasier, Mark, Gochanour, Caroline, Jennings, Danna, Kieburtz, Karl, Kopil, Catherine M, Merchant, Kalpana, Mollenhauer, Brit, Montine, Thomas, Nudelman, Kelly, Pagano, Gennaro, Seibyl, John, Sherer, Todd, Singleton, Andrew, Stephenson, Diane, Stern, Matthew, Soto, Claudio, Tanner, Caroline M, Tolosa, Eduardo, Weintraub, Daniel, Xiao, Yuge, Siderowf, Andrew, Dunn, Billy, and Marek, Kenneth

Published
2024
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3. Biological Staging of the Parkinson’s Progression Markers Initiative (PPMI) Cohort Using the Research Neuronal α-synuclein Disease Integrated Staging System (NSD-ISS) (P11-3.009)

Author

Tanner, Caroline, primary, Simuni, Tanya, additional, Chahine, Lana, additional, Poston, Kathleen, additional, Brumm, Michael, additional, Chowdry, Sohini, additional, Coffey, Christopher, additional, Concha-Marambio, Luis, additional, Dam, Tien, additional, DiBiaso, Peter, additional, Foroud, Tatiana, additional, Frasier, Mark, additional, Gochanour, Caroline, additional, Jennings, Danna, additional, Kieburtz, Karl, additional, Kopil, Catherine, additional, Merchant, Kalpana, additional, Mollenhauer, Brit, additional, Montine, Thomas, additional, Nudelman, Kelly, additional, Pagano, Gennaro, additional, Seibyl, John, additional, Sherer, Todd, additional, Singleton, Andrew, additional, Stephenson, Diane, additional, Stern, Matthew, additional, Soto, Claudio, additional, Tolosa, Eduardo, additional, Weintraub, Daniel, additional, Xiao, Yuge, additional, Siderowf, Andrew, additional, Poewe, Werner, additional, and Marek, Kenneth, additional

Published
2024
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4. Serial olfactory testing for the diagnosis of prodromal Parkinson's disease in the PARS study

Author

Jennings, Danna, Marek, Ken, Seibyl, John, Siderowf, Andrew, Stern, Matthew, Russell, David, Sethi, Kapil, Frank, Samuel, Simuni, Tanya, Hauser, Robert, Ravina, Bernard, Richards, Irene, Liang, Grace, Adler, Charles, Saunders-Pullman, Rachel, Evatt, Marian L., Lai, Eugene, Subramanian, Indu, Hogarth, Penelope, Chung, Kathryn, Vaswani, Pavan A., Morley, James F., and Marek, Kenneth

Published
2022
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5. Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI)

Author

Prakash, Neha, Caspell-Garcia, Chelsea, Coffey, Christopher, Siderowf, Andrew, Tanner, Caroline M, Kieburtz, Karl, Mollenhauer, Brit, Galasko, Douglas, Merchant, Kalpana, Foroud, Tatiana, Chahine, Lana M, Weintraub, Daniel, Casaceli, Cindy, Dorsey, Ray, Wilson, Renee, Herzog, Margaret, Daegele, Nichole, Arnedo, Vanessa, Frasier, Mark, Sherer, Todd, Marek, Ken, Frank, Samuel, Jennings, Danna, Simuni, Tanya, Marek, Kenneth, Seibyl, John, Tanner, Caroline, Tosun-Turgut, Duygu, Shaw, Leslie, Trojanowski, John, Singleton, Andrew, Toga, Arthur, Poewe, Werner, Poston, Kathleen, Chowdhury, Sohini, Kopil, Catherine, Casaceli, Cynthia, Mahes, Sugi, Salerno, Christina, Crawford, Karen, Casalin, Paola, Malferrari, Giulia, Weisz, Mali Gani, Orr-Urtreger, Avi, Montine, Thomas, Russell, David, Dahodwala, Nabila, Giladi, Nir, Factor, Stewart, Hogarth, Penelope, Standaert, David, Hauser, Robert, Jankovic, Joseph, Saint-Hilaire, Marie, Richard, Irene, Shprecher, David, Fernandez, Hubert, Brockmann, Katrina, Rosenthal, Liana, Barone, Paolo, Espay, Alberto, Rowe, Dominic, Marder, Karen, Santiago, Anthony, Bressman, Susan, Hu, Shu-Ching, Isaacson, Stuart, Corvol, Jean-Christophe, Martinez, Javiar Ruiz, and Tolosa, Eduardo

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Parkinson's Disease, Prevention, Clinical Research, Brain Disorders, Neurodegenerative, Aging, Neurosciences, Neurological, Aged, Biomarkers, Cohort Studies, Disease Progression, Feasibility Studies, Female, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease, Post-Dural Puncture Headache, Spinal Puncture, Tinnitus, Parkinson's disease, Lumbar puncture, Safety, Adverse events, Parkinson's Progression Markers InitiativeSteering Committee, Study Cores, Site Investigators, Coordinators, Industry and Scientific Advisory Board, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology
Abstract

ObjectiveTo determine the feasibility, safety and tolerability of lumbar punctures (LPs) in research participants with early Parkinson disease (PD), subjects without evidence of dopaminergic deficiency (SWEDDs) and healthy volunteers (HC).BackgroundCerebrospinal fluid (CSF) analysis is becoming an essential part of the biomarkers discovery effort in PD with still limited data on safety and feasibility of serial LPs in PD participants.Design/methodsParkinson's Progression Marker Initiative (PPMI) is a longitudinal observation study designed to identify PD progression biomarkers. All PPMI participants undergo LP at baseline, 6, 12 months and yearly thereafter. CSF collection is performed by a trained investigator using predominantly atraumatic needles. Adverse events (AEs) are monitored by phone one week after LP completion. We analyzed safety data from baseline LPs.ResultsPPMI enrolled 683 participants (423 PD/196 HC/64 SWEDDs) from 23 study sites. CSF was collected at baseline in 97.5% of participants, of whom 5.4% underwent collection under fluoroscopy. 23% participants reported any related AEs, 68% of all AE were mild while 5.6% were severe. The most common AEs were headaches (13%) and low back pain (6.5%) and both occurred more commonly in HC and SWEDDs compared to PD participants. Factors associated with higher incidence of AEs across the cohorts included female gender, younger age and use of traumatic needles with larger diameter. AEs largely did not impact compliance with the future LPs.ConclusionsLPs are safe and feasible in PD research participants. Specific LP techniques (needle type and gauge) may reduce the overall incidence of AEs.

Published
2019

6. The Parkinson's progression markers initiative (PPMI) - establishing a PD biomarker cohort.

Author

Marek, Kenneth, Chowdhury, Sohini, Siderowf, Andrew, Lasch, Shirley, Coffey, Christopher S, Caspell-Garcia, Chelsea, Simuni, Tanya, Jennings, Danna, Tanner, Caroline M, Trojanowski, John Q, Shaw, Leslie M, Seibyl, John, Schuff, Norbert, Singleton, Andrew, Kieburtz, Karl, Toga, Arthur W, Mollenhauer, Brit, Galasko, Doug, Chahine, Lana M, Weintraub, Daniel, Foroud, Tatiana, Tosun-Turgut, Duygu, Poston, Kathleen, Arnedo, Vanessa, Frasier, Mark, Sherer, Todd, and Parkinson's Progression Markers Initiative

Subjects
Parkinson's Progression Markers Initiative, Neurosciences, Aging, Biomedical Imaging, Clinical Trials and Supportive Activities, Parkinson's Disease, Brain Disorders, Neurodegenerative, Clinical Research, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Clinical Sciences
Abstract

ObjectiveThe Parkinson's Progression Markers Initiative (PPMI) is an observational, international study designed to establish biomarker-defined cohorts and identify clinical, imaging, genetic, and biospecimen Parkinson's disease (PD) progression markers to accelerate disease-modifying therapeutic trials.MethodsA total of 423 untreated PD, 196 Healthy Control (HC) and 64 SWEDD (scans without evidence of dopaminergic deficit) subjects were enrolled at 24 sites. To enroll PD subjects as early as possible following diagnosis, subjects were eligible with only asymmetric bradykinesia or tremor plus a dopamine transporter (DAT) binding deficit on SPECT imaging. Acquisition of data was standardized as detailed at www.ppmi-info.org.ResultsApproximately 9% of enrolled subjects had a single PD sign at baseline. DAT imaging excluded 16% of potential PD subjects with SWEDD. The total MDS-UPDRS for PD was 32.4 compared to 4.6 for HC and 28.2 for SWEDD. On average, PD subjects demonstrated 45% and 68% reduction in mean striatal and contralateral putamen Specific Binding Ratios (SBR), respectively. Cerebrospinal fluid (CSF) was acquired from >97% of all subjects. CSF (PD/HC/SWEDD pg/mL) α-synuclein (1845/2204/2141) was reduced in PD vs HC or SWEDD (P

Published
2018

7. Longitudinal Change of Clinical and Biological Measures in Early Parkinson's Disease: Parkinson's Progression Markers Initiative Cohort.

Author

Simuni, Tanya, Siderowf, Andrew, Lasch, Shirley, Coffey, Chris S, Caspell-Garcia, Chelsea, Jennings, Danna, Tanner, Caroline M, Trojanowski, John Q, Shaw, Leslie M, Seibyl, John, Schuff, Norbert, Singleton, Andrew, Kieburtz, Karl, Toga, Arthur W, Mollenhauer, Brit, Galasko, Doug, Chahine, Lana M, Weintraub, Daniel, Foroud, Tatiana, Tosun, Duygu, Poston, Kathleen, Arnedo, Vanessa, Frasier, Mark, Sherer, Todd, Chowdhury, Sohini, Marek, Kenneth, and Parkinson's Progression Marker Initiative*

Subjects
Parkinson's Progression Marker Initiative*, Corpus Striatum, Humans, Parkinson Disease, Disease Progression, Nortropanes, Peptide Fragments, tau Proteins, Cohort Studies, Age Factors, Aged, Middle Aged, Female, Male, Dopamine Plasma Membrane Transport Proteins, Amyloid beta-Peptides, Parkinson's disease, disease subtypes, gait disorder predominant, postural instability, tremor dominant, Neurodegenerative, Clinical Research, Parkinson's Disease, Brain Disorders, Aging, Neurosciences, Neurological, Neurology & Neurosurgery, Clinical Sciences, Human Movement and Sports Sciences
Abstract

OBJECTIVE:The objective of this study was to assess longitudinal change in clinical and dopamine transporter imaging outcomes in early, untreated PD. METHODS:We describe 5-year longitudinal change of the MDS-UPDRS and other clinical measures using results from the Parkinson's Progression Markers Initiative, a longitudinal cohort study of early Parkinson's disease (PD) participants untreated at baseline. We also provide data on the longitudinal change in dopamine transporter 123-I Ioflupane striatal binding and correlation between the 2 measures. RESULTS:A total of 423 PD participants were recruited, and 358 remain in the study at year 5. Baseline MDS-UPDRS total score was 32.4 (standard deviation 13.1), and the average annual change (assessed medications OFF for the treated participants) was 7.45 (11.6), 3.11 (11.7), 4(11.9), 4.7 (11.1), and 1.74(11.9) for years 1, 2, 3, 4, and 5, respectively (P

Published
2018

8. Baseline prevalence and longitudinal evolution of non-motor symptoms in early Parkinson’s disease: the PPMI cohort

Author

Simuni, Tanya, Caspell-Garcia, Chelsea, Coffey, Christopher S, Weintraub, Daniel, Mollenhauer, Brit, Lasch, Shirley, Tanner, Caroline M, Jennings, Danna, Kieburtz, Karl, Chahine, Lana M, and Marek, Kenneth

Subjects
Neurodegenerative, Brain Disorders, Clinical Research, Prevention, Aging, Parkinson's Disease, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Age Factors, Amyloid beta-Peptides, Biomarkers, Disease Progression, Early Diagnosis, Female, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease, Prevalence, Prospective Studies, Severity of Illness Index, Sex Factors, biomarkers, non-motor symptoms, parkinson’s disease, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo examine the baseline prevalence and longitudinal evolution in non-motor symptoms (NMS) in a prospective cohort of, at baseline, patients with de novo Parkinson's disease (PD) compared with healthy controls (HC).MethodsParkinson's Progression Markers Initiative (PPMI) is a longitudinal, ongoing, controlled study of de novo PD participants and HC. NMS were rated using the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part I score and other validated NMS scales at baseline and after 2 years. Biological variables included cerebrospinal fluid (CSF) markers and dopamine transporter imaging.Results423 PD subjects and 196 HC were enrolled and followed for 2 years. MDS-UPDRS Part I total mean (SD) scores increased from baseline 5.6 (4.1) to 7.7 (5.0) at year 2 in PD subjects (p

Published
2018

9. Predictors of time to initiation of symptomatic therapy in early Parkinson's disease

Author

Simuni, Tanya, Long, Jeffrey D, Caspell‐Garcia, Chelsea, Coffey, Christopher S, Lasch, Shirley, Tanner, Caroline M, Jennings, Danna, Kieburtz, Karl D, Marek, Kenneth, and Investigators, the PPMI

Subjects
Clinical and Health Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Neurodegenerative, Aging, Prevention, Parkinson's Disease, Brain Disorders, Clinical Research, Neurological, PPMI Investigators, Biomarkers, Parkinson's disease, symptomatic therapy, Clinical Sciences, Clinical and health psychology
Abstract

ObjectiveTo determine clinical and biological variables that predict time to initiation of symptomatic therapy in de novo Parkinson's disease patients.MethodsParkinson's Progression Markers Initiative is a longitudinal case-control study of de novo, untreated Parkinson's disease participants at enrolment. Participants contribute a wide range of motor and non-motor measures, including biofluids and imaging biomarkers. The machine learning method of random survival forests was used to examine the ability of baseline variables to predict time to initiation of symptomatic therapy since study enrollment (baseline).ResultsThere were 423 PD participants enrolled in PPMI and 33 initial baseline variables. Cross-validation results showed that the three-predictor subset of disease duration (time from diagnosis to enrollment), the modified Schwab and England activities of daily living scale, and the Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) total score modestly predicted time to initiation of symptomatic therapy (C = 0.70, pseudo-R (2) = 0.13). Prediction using the three variables was similar to using the entire set of 33. None of the biological variables increased accuracy of the prediction. A prognostic index for time to initiation of symptomatic therapy was created using the linear and nonlinear effects of the three top variables based on a post hoc Cox model.InterpretationOur findings using a novel machine learning method support previously reported clinical variables that predict time to initiation of symptomatic therapy. However, the inclusion of biological variables did not increase prediction accuracy. Our prognostic index constructed, based on the group-level survival curve can provide an indication of the risk of initiation of ST for PD patients based on functions of the three top predictors.

Published
2016

10. CSF biomarkers associated with disease heterogeneity in early Parkinson’s disease: the Parkinson’s Progression Markers Initiative study

Author

Kang, Ju-Hee, Mollenhauer, Brit, Coffey, Christopher S, Toledo, Jon B, Weintraub, Daniel, Galasko, Douglas R, Irwin, David J, Van Deerlin, Vivianna, Chen-Plotkin, Alice S, Caspell-Garcia, Chelsea, Waligórska, Teresa, Taylor, Peggy, Shah, Nirali, Pan, Sarah, Zero, Pawel, Frasier, Mark, Marek, Kenneth, Kieburtz, Karl, Jennings, Danna, Tanner, Caroline M, Simuni, Tanya, Singleton, Andrew, Toga, Arthur W, Chowdhury, Sohini, Trojanowski, John Q, Shaw, Leslie M, and The Parkinson’s Progression Marker Initiative

Subjects
Biomedical and Clinical Sciences, Neurosciences, Prevention, Parkinson's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Aging, Neurodegenerative, Clinical Research, Alzheimer's Disease, Brain Disorders, Acquired Cognitive Impairment, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Aetiology, 4.2 Evaluation of markers and technologies, Neurological, Adult, Aged, Aged, 80 and over, Amyloid beta-Peptides, Biomarkers, Cognition, Cognition Disorders, Disease Progression, Early Diagnosis, Female, Humans, Male, Middle Aged, Parkinson Disease, Peptide Fragments, Phenotype, Prospective Studies, Parkinson's disease, Cerebrospinal fluid biomarker, Parkinson's Progression Markers Initiative, A beta(1-42), Tau, Alpha-synuclein, Parkinson’s Progression Marker Initiative, Aβ1-42, Parkinson’s Progression Markers Initiative, Parkinson’s disease, Clinical Sciences, Neurology & Neurosurgery
Abstract

The development of biomarkers to predict the progression of Parkinson's disease (PD) from its earliest stage through its heterogeneous course is critical for research and therapeutic development. The Parkinson's Progression Markers Initiative (PPMI) study is an ongoing international multicenter, prospective study to validate biomarkers in drug-naïve PD patients and matched healthy controls (HC). We quantified cerebrospinal fluid (CSF) alpha-synuclein (α-syn), amyloid-beta1-42 (Aβ1-42), total tau (t-tau), and tau phosphorylated at Thr181 (p-tau) in 660 PPMI subjects at baseline, and correlated these data with measures of the clinical features of these subjects. We found that CSF α-syn, t-tau and p-tau levels, but not Aβ1-42, were significantly lower in PD compared with HC, while the diagnostic value of the individual CSF biomarkers for PD diagnosis was limited due to large overlap. The level of α-syn, but not other biomarkers, was significantly lower in PD patients with non-tremor-dominant phenotype compared with tremor-dominant phenotype. In addition, in PD patients the lowest Aβ1-42, or highest t-tau/Aβ1-42 and t-tau/α-syn quintile in PD patients were associated with more severe non-motor dysfunction compared with the highest or lowest quintiles, respectively. In a multivariate regression model, lower α-syn was significantly associated with worse cognitive test performance. APOE ε4 genotype was associated with lower levels of Aβ1-42, but neither with PD diagnosis nor cognition. Our data suggest that the measurement of CSF biomarkers in early-stage PD patients may relate to disease heterogeneity seen in PD. Longitudinal observations in PPMI subjects are needed to define their prognostic performance.

Published
2016

12. Research on the Premotor Symptoms of Parkinson’s Disease: Clinical and Etiological Implications

Author

Chen, Honglei, Burton, Edward A, Ross, G Webster, Huang, Xuemei, Savica, Rodolfo, Abbott, Robert D, Ascherio, Alberto, Caviness, John N, Gao, Xiang, Gray, Kimberly A, Hong, Jau-Shyong, Kamel, Freya, Jennings, Danna, Kirshner, Annette, Lawler, Cindy, Liu, Rui, Miller, Gary W, Nussbaum, Robert, Peddada, Shyamal D, Rick, Amy Comstock, Ritz, Beate, Siderowf, Andrew D, Tanner, Caroline M, Tröster, Alexander I, and Zhang, Jing

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Neurodegenerative, Brain Disorders, Aging, Parkinson's Disease, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Agnosia, Constipation, Disease Progression, Humans, Parkinson Disease, Prodromal Symptoms, REM Sleep Behavior Disorder, Research, Environmental Sciences, Medical and Health Sciences, Toxicology, Biomedical and clinical sciences, Environmental sciences, Health sciences
Abstract

BackgroundThe etiology and natural history of Parkinson's disease (PD) are not well understood. Some non-motor symptoms such as hyposmia, rapid eye movement sleep behavior disorder, and constipation may develop during the prodromal stage of PD and precede PD diagnosis by years.ObjectivesWe examined the promise and pitfalls of research on premotor symptoms of PD and developed priorities and strategies to understand their clinical and etiological implications.MethodsThis review was based on a workshop, Parkinson's Disease Premotor Symptom Symposium, held 7-8 June 2012 at the National Institute of Environmental Health Sciences in Research Triangle Park, North Carolina.DiscussionResearch on premotor symptoms of PD may offer an excellent opportunity to characterize high-risk populations and to better understand PD etiology. Such research may lead to evaluation of novel etiological hypotheses such as the possibility that environmental toxicants or viruses may initiate PD pathogenesis in the gastrointestinal tract or olfactory bulb. At present, our understanding of premotor symptoms of PD is in its infancy and faces many obstacles. These symptoms are often not specific to PD and have low positive predictive value for early PD diagnosis. Further, the pathological bases and biological mechanisms of these premotor symptoms and their relevance to PD pathogenesis are poorly understood.ConclusionThis is an emerging research area with important data gaps to be filled. Future research is needed to understand the prevalence of multiple premotor symptoms and their etiological relevance to PD. Animal experiments and mechanistic studies will further understanding of the biology of these premotor symptoms and test novel etiological hypothesis.

Published
2013

13. Association of Cerebrospinal Fluid β-Amyloid 1-42, T-tau, P-tau181, and α-Synuclein Levels With Clinical Features of Drug-Naive Patients With Early Parkinson Disease

Author

Kang, Ju-Hee, Irwin, David J, Chen-Plotkin, Alice S, Siderowf, Andrew, Caspell, Chelsea, Coffey, Christopher S, Waligórska, Teresa, Taylor, Peggy, Pan, Sarah, Frasier, Mark, Marek, Kenneth, Kieburtz, Karl, Jennings, Danna, Simuni, Tanya, Tanner, Caroline M, Singleton, Andrew, Toga, Arthur W, Chowdhury, Sohini, Mollenhauer, Brit, Trojanowski, John Q, Shaw, Leslie M, Lasch, Shirley, Flagg, Emily, Poewe, Werner, Sherer, Todd, Meunier, Claire, Rudolph, Alice, Casaceli, Cindy, Seibyl, John, Mendick, Susan, Schuff, Norbert, Uribe, Liz, Yankey, Jon, Crawford, Karen, Scutti, Alison, Casalin, Paola, Malferrari, Giulia, Hawkins, Keith, Russell, David, Leary, Laura, Factor, Stewart, Sommerfeld, Barbara, Hogarth, Penelope, Pighetti, Emily, Williams, Karen, Standaert, David, Guthrie, Stephanie, Hauser, Robert, Jankovic, Joseph, Hunter, Christine, Stern, Matthew, Darin, Abigail, Leverenz, Jim, Baca, Marne, Frank, Sam, Thomas, Cathi-Ann, Richard, Irene, Deeley, Cheryl, Rees, Linda, Sprenger, Fabienne, Oertel, Wolfgang, Willeke, Diana, Shill, Holly, Fernandez, Hubert, Mule, Jennifer, Berg, Daniela, Gauss, Katharina, Galasko, Douglas, Fontaine, Deborah, Mari, Zoltan, McCoy, Arita, Brooks, David, Shah, Bina, Barone, Paolo, Isaacson, Stuart, James, Angela, Espay, Alberto, Espay, Kristy, Rowe, Dominic, and Ranola, Madelaine

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Neurosciences, Aging, Neurodegenerative, Brain Disorders, Dementia, Acquired Cognitive Impairment, Parkinson's Disease, Clinical Research, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Neurological, Amyloid beta-Peptides, Case-Control Studies, Cohort Studies, Female, Humans, Male, Memory, Middle Aged, Movement, Neuropsychological Tests, Parkinson Disease, Peptide Fragments, Phosphorylation, Regression Analysis, Severity of Illness Index, Statistics as Topic, Threonine, Verbal Learning, alpha-Synuclein, tau Proteins, Parkinson's Progression Markers Initiative
Abstract

ImportanceWe observed a significant correlation between cerebrospinal fluid (CSF) levels of tau proteins and α-synuclein, but not β-amyloid 1-42 (Aβ1-42), and lower concentration of CSF biomarkers, as compared with healthy controls, in a cohort of entirely untreated patients with Parkinson disease (PD) at the earliest stage of the disease studied so far.ObjectiveTo evaluate the baseline characteristics and relationship to clinical features of CSF biomarkers (Aβ1-42, total tau [T-tau], tau phosphorylated at threonine 181 [P-tau181], and α-synuclein) in drug-naive patients with early PD and demographically matched healthy controls enrolled in the Parkinson's Progression Markers Initiative (PPMI) study.Design, setting, and participantsCross-sectional study of the initial 102 research volunteers (63 patients with PD and 39 healthy controls) of the PPMI cohort.Main outcomes and measuresThe CSF biomarkers were measured by INNO-BIA AlzBio3 immunoassay (Aβ1-42, T-tau, and P-tau181; Innogenetics Inc) or by enzyme-linked immunosorbent assay (α-synuclein). Clinical features including diagnosis, demographic characteristics, motor, neuropsychiatric, and cognitive assessments, and DaTscan were systematically assessed according to the PPMI study protocol.ResultsSlightly, but significantly, lower levels of Aβ1-42, T-tau, P-tau181, α-synuclein, and T-tau/Aβ1-42 were seen in subjects with PD compared with healthy controls but with a marked overlap between groups. Using multivariate regression analysis, we found that lower Aβ1-42 and P-tau181 levels were associated with PD diagnosis and that decreased CSF T-tau and α-synuclein were associated with increased motor severity. Notably, when we classified patients with PD by their motor phenotypes, lower CSF Aβ1-42 and P-tau181 concentrations were associated with the postural instability-gait disturbance-dominant phenotype but not with the tremor-dominant or intermediate phenotype. Finally, we found a significant correlation of the levels of α-synuclein with the levels of T-tau and P-tau181.Conclusions and relevanceIn this first report of CSF biomarkers in PPMI study subjects,we found that measures of CSF Aβ1-42, T-tau, P-tau181, and α-synuclein have prognostic and diagnostic potential in early-stage PD. Further investigations using the entire PPMI cohort will test the predictive performance of CSF biomarkers for PD progression

Published
2013

14. In vivo distribution of α-synuclein in multiple tissues and biofluids in Parkinson disease

Author

Chahine, Lana M., Beach, Thomas G., Brumm, Michael C., Adler, Charles H., Coffey, Christopher S., Mosovsky, Sherri, Caspell-Garcia, Chelsea, Serrano, Geidy E., Munoz, David G., White, Charles L., III, Crary, John F., Jennings, Danna, Taylor, Peggy, Foroud, Tatiana, Arnedo, Vanessa, Kopil, Catherine M., Riley, Lindsey, Dave, Kuldip D., and Mollenhauer, Brit

Published
2020
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15. A Biological Definition and Integrated Staging System of Neuronal alpha-Synuclein Disease

Author

Simuni, Tanya, Chahine, Lana, Poston, Kathleen, Brumm, Michael, Buracchio, Theresa, Campbell, Michelle, Chowdhury, Sohini, Coffey, Christopher, Concha-Marambio, Luis, Dam, Tien, DiBiaso, Peter, Foroud, Tatiana, Frasier, Mark, Gochanour, Caroline, Jennings, Danna, Kieburtz, Karl, Kopil, Catherine M., Merchant, Kalpana, Mollenhauer, Brit, Montine, Thomas, Nudelman, Kelly, Pagano, Gennaro, Seibyl, John, Sherer, Todd, Singleton, Andrew, Stephenson, Diane, Stern, Matthew, Soto, Claudio, Tanner, Caroline M., Tolosa, Eduardo, Weintraub, Daniel, Xiao, Yuge, Siderowf, Andrew, Dunn, Billy, Marek, Kenneth, Poewe, Werner, Handler, Alison, Mathur, Soania, Siu, Carroll, Asis, Angelica, Campbell, Clyde, Dexter, David, Fargo, Keith, Lee, Karen, Matthews, Helen, Naito, Anna, Taylor, Angela, Multiple Collaborators at The Critical Path Institute, Parkinson Canada, Shake It Up Australia Foundation, Parkinson's UK, Lewy Body Dementia Association, and Cure Parkinson's

Subjects
Biological definition, Neuronal Alpha-Synuclein Disease, Parkinson's disease, Dementia with Lewy Bodies
Abstract

Parkinson’s disease and dementia with Lewy Bodies share the same underlying neurobiology (Lewy pathology with neuronal aggregates of pathologic alpha-synuclein) yet are currently defined clinically. We propose a biological definition for “Neuronal alpha-Synuclein Disease (NSD)” including all clinicopathological entities associated with neuronal-predominant pathologic alpha-synuclein (n-asyn) aggregation. NSD is defined by presence of pathologic n-asyn species detected in-vivo (S) independent of any specific clinical syndrome. We further propose that individuals with n-asyn are at risk for dopaminergic neuronal dysfunction (D), the second biologic anchor for NSD. The Neuronal Synuclein Disease Integrated Staging System (NSD-ISS) integrates these biological anchors (S and D) and degree of functional impairment caused by signs/symptoms. Stages 0-1 are without signs/symptoms and defined by presence of pathogenic variants in SNCA gene (Stage 0), S alone (Stage 1A) or S and D (Stage 1B). Presence of clinical manifestations marks transition to Stage 2 and beyond. Stage 2 is characterized by subtle signs/symptoms but no functional impairment. Stages 2B-6 require both S and D and the stage-specific increases in functional impairment. NSD definition and NSD-ISS, which will evolve as additional biomarkers emerge, provide a framework essential to advancing biologically-targetedtherapeutics and enablinginterventional trials at early disease stages.

Published
2023
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16. Amyloid-&bgr; assessed by florbetapir F 18 PET and 18-month cognitive decline

Author

Doraiswamy, P Murali, Sperling, Reisa A, Coleman, R Edward, Johnson, Keith A, Reiman, Eric M, Davis, Mat D, Grundman, Michael, Sabbagh, Marwan N, Sadowsky, Carl H, Fleisher, Adam S, Carpenter, Alan, Clark, Christopher M, Joshi, Abhinay D, Mintun, Mark A, Skovronsky, Daniel M, Pontecorvo, Michael J, Duara, Ranjan, Sabbagh, Marwan, Ahern, Geoffrey Lawrence, Holub, Richard F, Farmer, Mildred V, Safirstein, Beth Emmie, Alva, Gustavo, Longmire, Crystal F, Jewell, George, Korn, Ron, Wendt, Jeanette K, Wong, Dean, Devous, Michael, Jennings, Danna, Weiner, Michael W, Murphy, Cynthia A, Kovnat, Karel D, and Williamson, Jeff D

Subjects
Acquired Cognitive Impairment, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Clinical Research, Dementia, Aging, Alzheimer's Disease, Biomedical Imaging, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Neurological, Aged, Alzheimer Disease, Amyloid beta-Peptides, Aniline Compounds, Brain, Cognition Disorders, Cognitive Dysfunction, Ethylene Glycols, Female, Follow-Up Studies, Humans, Longitudinal Studies, Male, Neuropsychological Tests, Positron-Emission Tomography, Predictive Value of Tests, Psychiatric Status Rating Scales, Psychomotor Performance, Radiopharmaceuticals, Risk, AV45-A11 Study Group, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectivesFlorbetapir F 18 PET can image amyloid-β (Aβ) aggregates in the brains of living subjects. We prospectively evaluated the prognostic utility of detecting Aβ pathology using florbetapir PET in subjects at risk for progressive cognitive decline.MethodsA total of 151 subjects who previously participated in a multicenter florbetapir PET imaging study were recruited for longitudinal assessment. Subjects included 51 with recently diagnosed mild cognitive impairment (MCI), 69 cognitively normal controls (CN), and 31 with clinically diagnosed Alzheimer disease dementia (AD). PET images were visually scored as positive (Aβ+) or negative (Aβ-) for pathologic levels of β-amyloid aggregation, blind to diagnostic classification. Cerebral to cerebellar standardized uptake value ratios (SUVr) were determined from the baseline PET images. Subjects were followed for 18 months to evaluate changes in cognition and diagnostic status. Analysis of covariance and correlation analyses were conducted to evaluate the association between baseline PET amyloid status and subsequent cognitive decline.ResultsIn both MCI and CN, baseline Aβ+ scans were associated with greater clinical worsening on the Alzheimer's Disease Assessment Scale-Cognitive subscale (ADAS-Cog (p < 0.01) and Clinical Dementia Rating-sum of boxes (CDR-SB) (p < 0.02). In MCI Aβ+ scans were also associated with greater decline in memory, Digit Symbol Substitution (DSS), and Mini-Mental State Examination (MMSE) (p < 0.05). In MCI, higher baseline SUVr similarly correlated with greater subsequent decline on the ADAS-Cog (p < 0.01), CDR-SB (p < 0.03), a memory measure, DSS, and MMSE (p < 0.05). Aβ+ MCI tended to convert to AD dementia at a higher rate than Aβ- subjects (p < 0.10).ConclusionsFlorbetapir PET may help identify individuals at increased risk for progressive cognitive decline.

Published
2012

18. LRRK2 Inhibition by BIIB122 in Healthy Participants and Patients with Parkinson's Disease

Author

Jennings, Danna, primary, Huntwork‐Rodriguez, Sarah, additional, Vissers, Maurits F.J.M., additional, Daryani, Vinay M., additional, Diaz, Dolores, additional, Goo, Marisa S., additional, Chen, John J., additional, Maciuca, Romeo, additional, Fraser, Kyle, additional, Mabrouk, Omar S., additional, van de Wetering de Rooij, Jeroen, additional, Heuberger, Jules A.A.C., additional, Groeneveld, Geert Jan, additional, Borin, Marie T., additional, Cruz‐Herranz, Andrés, additional, Graham, Danielle, additional, Scearce‐Levie, Kimberly, additional, De Vicente, Javier, additional, Henry, Anastasia G., additional, Chin, Peter, additional, Ho, Carole, additional, and Troyer, Matthew D., additional

Published
2023
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19. Serial olfactory testing for the diagnosis of prodromal Parkinson's disease in the PARS study

Author

Vaswani, Pavan A., primary, Morley, James F., additional, Jennings, Danna, additional, Siderowf, Andrew, additional, Marek, Kenneth, additional, Marek, Ken, additional, Seibyl, John, additional, Stern, Matthew, additional, Russell, David, additional, Sethi, Kapil, additional, Frank, Samuel, additional, Simuni, Tanya, additional, Hauser, Robert, additional, Ravina, Bernard, additional, Richards, Irene, additional, Liang, Grace, additional, Adler, Charles, additional, Saunders-Pullman, Rachel, additional, Evatt, Marian L., additional, Lai, Eugene, additional, Subramanian, Indu, additional, Hogarth, Penelope, additional, and Chung, Kathryn, additional

Published
2022
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23. Central and peripheral α‐synuclein in Parkinson disease detected by seed amplification assay.

Author

Chahine, Lana M., Beach, Thomas G., Adler, Charles H., Hepker, Monica, Kanthasamy, Anumantha, Appel, Scott, Pritzkow, Sandra, Pinho, Michelle, Mosovsky, Sherri, Serrano, Geidy E., Coffey, Christopher, Brumm, Michael C., Oliveira, Luis M. A., Eberling, Jamie, Mollenhauer, Brit, Dave, Kuldip, Jennings, Danna, Seibyl, John, Arnedo, Vanessa, and Riley, Lindsey

Subjects
ALPHA-synuclein, PARKINSON'S disease, SUBMANDIBULAR gland, CEREBROSPINAL fluid, SEEDS, DOWNY mildew diseases
Abstract

Objectives: Detection of α‐synuclein aggregates by seed amplification is a promising Parkinson disease biomarker assay. Understanding intraindividual relationships of α‐synuclein measures could inform optimal biomarker development. The objectives were to test accuracy of α‐synuclein seed amplification assay in central (cerebrospinal fluid) and peripheral (submandibular gland) sources, compare to total α‐synuclein measures, and investigate within‐subject relationships. Methods: The Systemic Synuclein Sampling Study aimed to characterize α‐synuclein in multiple tissues and biofluids within Parkinson disease subjects (n = 59) and compared to healthy controls (n = 21). Motor and non‐motor measures and dopamine transporter scans were obtained. Four measures of α‐synuclein were compared: seed amplification assay in cerebrospinal fluid and formalin‐fixed paraffin‐embedded submandibular gland, total α‐synuclein quantified in biofluids using enzyme‐linked immunoassay, and aggregated α‐synuclein in submandibular gland detected by immunohistochemistry. Accuracy of seed amplification assay for Parkinson disease diagnosis was examined and within‐subject α‐synuclein measures were compared. Results: Sensitivity and specificity of α‐synuclein seed amplification assay for Parkinson disease diagnosis was 92.6% and 90.5% in cerebrospinal fluid, and 73.2% and 78.6% in submandibular gland, respectively. 25/38 (65.8%) Parkinson disease participants were positive for both cerebrospinal fluid and submandibular gland seed amplification assay. Comparing accuracy for Parkinson disease diagnosis of different α‐synuclein measures, cerebrospinal fluid seed amplification assay was the highest (Youden Index = 83.1%). 98.3% of all Parkinson disease cases had ≥1 measure of α‐synuclein positive. Interpretation: α‐synuclein seed amplification assay (cerebrospinal fluid>submandibular gland) had higher sensitivity and specificity compared to total α‐synuclein measures, and within‐subject relationships of central and peripheral α‐synuclein measures emerged. [ABSTRACT FROM AUTHOR]

Published
2023
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24. Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson’s disease

Author

Jennings, Danna, primary, Huntwork-Rodriguez, Sarah, additional, Henry, Anastasia G., additional, Sasaki, Jennifer C., additional, Meisner, René, additional, Diaz, Dolores, additional, Solanoy, Hilda, additional, Wang, Xiang, additional, Negrou, Elvira, additional, Bondar, Vitaliy V., additional, Ghosh, Rajarshi, additional, Maloney, Michael T., additional, Propson, Nicholas E., additional, Zhu, Yuda, additional, Maciuca, Romeo D., additional, Harris, Laura, additional, Kay, Angela, additional, LeWitt, Peter, additional, King, T. Alex, additional, Kern, Drew, additional, Ellenbogen, Aaron, additional, Goodman, Ira, additional, Siderowf, Andrew, additional, Aldred, Jason, additional, Omidvar, Omid, additional, Masoud, Shababa T., additional, Davis, Sonnet S., additional, Arguello, Annie, additional, Estrada, Anthony A., additional, de Vicente, Javier, additional, Sweeney, Zachary K., additional, Astarita, Giuseppe, additional, Borin, Marie T., additional, Wong, Bradley K., additional, Wong, Harvey, additional, Nguyen, Hoang, additional, Scearce-Levie, Kimberly, additional, Ho, Carole, additional, and Troyer, Matthew D., additional

Published
2022
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30. Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study

Author

Brašić, James Robert, primary, Goodman, Jack Alexander, additional, Nandi, Ayon, additional, Russell, David S., additional, Jennings, Danna, additional, Barret, Olivier, additional, Martin, Samuel D., additional, Slifer, Keith, additional, Sedlak, Thomas, additional, Mathur, Anil Kumar, additional, Seibyl, John P., additional, Berry-Kravis, Elizabeth M., additional, Wong, Dean F., additional, and Budimirovic, Dejan B., additional

Published
2022
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35. Reduced Metabotropic Glutamate Receptor Subtype 5 in Fragile X Syndrome (4378)

Author

Brasic, James, primary, Nandi, Ayon, additional, Russell, David, additional, Jennings, Danna, additional, Barret, Olivier, additional, Mathur, Anil, additional, Slifer, Keith, additional, Sedlak, Thomas, additional, Martin, Samuel, additional, Brinson, Zabecca, additional, Vyas, Pankhuri, additional, Seibyl, John, additional, Berry-Kravis, Elizabeth, additional, Wong, Dean, additional, and Budimirovic, Dejan, additional

Published
2021
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37. Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Idiopathic Autism Spectrum Disorder and Fragile X Syndrome: A Pilot Study

Author

Brašić, James Robert, primary, Nandi, Ayon, additional, Russell, David S., additional, Jennings, Danna, additional, Barret, Olivier, additional, Martin, Samuel D., additional, Slifer, Keith, additional, Sedlak, Thomas, additional, Seibyl, John P., additional, Wong, Dean F., additional, and Budimirovic, Dejan B., additional

Published
2021
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38. The genetic architecture of the human cerebral cortex

Author

Grasby, Katrina L, Jahanshad, Neda, Shatokhina, Natalia, Mirza-Schreiber, Nazanin, Moreira, Jose C V, Mühleisen, Thomas W, Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M, Orfanos, Dimitri Papadopoulos, Pearson, John F, Zsembik, Leo C P, Pitcher, Toni L, Pütz, Benno, Quidé, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M, Reay, William R, Redlich, Ronny, Reinbold, Céline S, Repple, Jonathan, Richard, Geneviève, Thomopoulos, Sophia I, Riedel, Brandalyn C, Risacher, Shannon L, Rocha, Cristiane S, Mota, Nina Roth, Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J, Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R, Zhu, Alyssa H, Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E, Sprooten, Emma, Tansey, Katherine E, Teumer, Alexander, Thalamuthu, Anbupalam, Strike, Lachlan T, Tordesillas-Gutiérrez, Diana, Turner, Jessica A, Uhlmann, Anne, Vallerga, Costanza Ludovica, van der Meer, Dennis, van Donkelaar, Marjolein M J, van Eijk, Liza, van Erp, Theo G M, van Haren, Neeltje E M, van Rooij, Daan, Agartz, Ingrid, van Tol, Marie-José, Veldink, Jan H, Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M, Wen, Wei, Westlye, Lars T, Whelan, Christopher D, Alhusaini, Saud, Witt, Stephanie H, Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L, Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P, Artiges, Eric, Almeida, Marcio A A, Assareh, Amelia A, Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L, Brown, Gregory G, Cichon, Sven, Curran, Joanne E, Davies, Gareth E, Degenhardt, Franziska, Dennis, Michelle F, Alnæs, Dag, Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P, Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A, Green, Robert C, Häusler, Alexander N, Heindel, Walter, Amlien, Inge K, Ho, Beng-Choon, Hoffmann, Wolfgang U, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R, Jang, MiHyun, Jansen, Andreas, Kimbrel, Nathan A, Kolskår, Knut, Painter, Jodie N, Andersson, Micael, Koops, Sanne, Krug, Axel, Lim, Kelvin O, Luykx, Jurjen J, Mathalon, Daniel H, Mather, Karen A, Mattay, Venkata S, Matthews, Sarah, Mayoral Van Son, Jaqueline, McEwen, Sarah C, Ard, Tyler, Melle, Ingrid, Morris, Derek W, Mueller, Bryon A, Nauck, Matthias, Nordvik, Jan E, Nöthen, Markus M, O'Leary, Daniel S, Opel, Nils, Martinot, Marie-Laure Paillère, Pike, G Bruce, Armstrong, Nicola J, Preda, Adrian, Quinlan, Erin B, Rasser, Paul E, Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M, Tooney, Paul A, Torres, Fábio R, Veltman, Dick J, Voyvodic, James T, Ashley-Koch, Allison, Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H H, Bis, Joshua C, Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Atkins, Joshua R, Ikram, M Arfan, Launer, Lenore, Longstreth, W. T., Lopez, Oscar L, Mazoyer, Bernard, Mosley, Thomas H, Roshchupkin, Gennady V, Satizabal, Claudia L, Schmidt, Reinhold, Seshadri, Sudha, Bernard, Manon, Yang, Qiong, Initiative, Alzheimer’s Disease Neuroimaging, Consortium, CHARGE, Consortium, EPIGEN, Consortium, IMAGEN, Consortium, SYS, Initiative, Parkinson’s Progression Markers, Alvim, Marina K M, Ames, David, Anderson, Tim J, Brouwer, Rachel M, Andreassen, Ole A, Arias-Vasquez, Alejandro, Bastin, Mark E, Baune, Bernhard T, Beckham, Jean C, Blangero, John, Boomsma, Dorret I, Brodaty, Henry, Brunner, Han G, Buckner, Randy L, Buimer, Elizabeth E L, Buitelaar, Jan K, Bustillo, Juan R, Cahn, Wiepke, Cairns, Murray J, Calhoun, Vince, Carr, Vaughan J, Caseras, Xavier, Caspers, Svenja, Cavalleri, Gianpiero L, Cendes, Fernando, Bülow, Robin, Corvin, Aiden, Crespo-Facorro, Benedicto, Dalrymple-Alford, John C, Dannlowski, Udo, de Geus, Eco J C, Deary, Ian J, Delanty, Norman, Depondt, Chantal, Desrivières, Sylvane, Donohoe, Gary, Bürger, Christian, Espeseth, Thomas, Fernández, Guillén, Fisher, Simon E, Flor, Herta, Forstner, Andreas J, Francks, Clyde, Franke, Barbara, Glahn, David C, Gollub, Randy L, Grabe, Hans J, Colodro-Conde, Lucía, Cannon, Dara M, Gruber, Oliver, Håberg, Asta K, Hariri, Ahmad R, Hartman, Catharina A, Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans A, Hillegers, Manon H J, Hoekstra, Pieter J, Holmes, Avram J, Chakravarty, Mallar, Hong, L Elliot, Hopkins, William D, Hulshoff Pol, Hilleke E, Jernigan, Terry L, Jönsson, Erik G, Kahn, René S, Kennedy, Martin A, Kircher, Tilo T J, Kochunov, Peter, Kwok, John B J, Chen, Qiang, Le Hellard, Stephanie, Loughland, Carmel M, Martin, Nicholas G, Martinot, Jean-Luc, McDonald, Colm, McMahon, Katie L, Meyer-Lindenberg, Andreas, Michie, Patricia T, Morey, Rajendra A, Mowry, Bryan, Cheung, Joshua W, Nyberg, Lars, Oosterlaan, Jaap, Ophoff, Roel A, Pantelis, Christos, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W J H, Polderman, Tinca J C, Posthuma, Danielle, Rietschel, Marcella, Couvy-Duchesne, Baptiste, Roffman, Joshua L, Rowland, Laura M, Sachdev, Perminder S, Sämann, Philipp G, Schall, Ulrich, Schumann, Gunter, Scott, Rodney J, Sim, Kang, Sisodiya, Sanjay M, Smoller, Jordan W, Dale, Anders M, Sommer, Iris E, St Pourcain, Beate, Stein, Dan J, Toga, Arthur W, Trollor, Julian N, Van der Wee, Nic J A, van 't Ent, Dennis, Völzke, Henry, Walter, Henrik, Weber, Bernd, Dalvie, Shareefa, Weinberger, Daniel R, Wright, Margaret J, Zhou, Juan, Stein, Jason L, Thompson, Paul M, Medland, Sarah E, Consortium, Enhancing NeuroImaging Genetics through Meta-Analysis, Witte, A Veronica, Darin, Abigail, Fleisher, Adam, de Araujo, Tânia K, Pierce, Aimee, Mintz, Akiva, Lerner, Alan, Reith, Alastair D, Hofman, Albert, Espay, Alberto, Ihlenfeld, Albrecht, Ing, Alex, Iranzo, Alex, Beiser, Alexa S, de Zubicaray, Greig I, Norbash, Alexander, Barbot, Alexis, Rudolph, Alice, Portillo, Alicia, Chalker, Alison, Levey, Allan I, Rosen, Allyson, Smith, Amanda, Catafau, Ana, de Zwarte, Sonja M C, Ulysse, Anaztasia, Uitterlinden, André G, Becker, Andreas, Budson, Andrew E, Kertesz, Andrew, Siderowf, Andrew, Bralten, Janita, den Braber, Anouk, Singleton, Andrew, James, Angela, Oliver, Angela, Mishra, Aniket, Hake, Ann Marie, Burke, Anna, Sarrael, Antero, Porsteinsson, Anton P, Stringaris, Argyris, McCoy, Arita, Doan, Nhat Trung, Villringer, Arno, Lenahan, Art, Toga, Arthur, Bokde, Arun, Rawlins, Ashlee, Lamb, Ashley, Lee, Athena, Raj, Balebail Ashok, Tran, Baochan, Dohm, Katharina, Ruggeri, Barbara, Saba, Barbara, Lane, Barton, Yanez, Beatriz, Ances, Beau, Dunlop, Becky, Mudge, Benita, Ravina, Bernard, Ittermann, Bernd, Ehrlich, Stefan, van Noort, Betteke, Lind, Betty, Shah, Bina, Stefanovic, Bojana, Goldstein, Bonnie S, Bonakdarpour, Borna, Matthews, Brandy R, Borowski, Bret, Ott, Brian R, Reynolds, Brigid, Engelbrecht, Hannah-Ruth, Mollenhauer, Brit, Miller, Bruce L, Psaty, Bruce M, Spann, Bryan M, Sadowsky, Carl, Linder, Carly, Franz, Carol E, Tanner, Caroline, Kopil, Catherine, Thomas, Cathi-Ann, Erk, Susanne, Ward, Chad, Bernick, Charles, Smith, Charles D, DeCarli, Charles, Caspell, Chelsea, Deeley, Cheryl, Riordan, Cheryl, Mathis, Chet, Onyike, Chiadi, Heyn, Chris Chinthaka, Fan, Chun Chieh, Hosein, Chris, Leach, Christi, Bÿchel, Christian, Gigliotti, Christina, Hunter, Christine, Belden, Christine M, Tzourio, Christophe, Coffey, Christopher, van Dyck, Christopher H, Clark, Christopher M, Fedko, Iryna O, Wu, Chuang-Kuo, Albers, Colleen S, Chu, Congying, Brand, Connie, Isensee, Corinna, van Duijn, Cornelia M, Bishop, Courtney, Bodge, Courtney, Foley, Sonya F, Tatsuoka, Curtis, Casaceli, Cynthia, Carlsson, Cynthia M, Mathews, Dana, D'Agostino, Daniel, Silverman, Daniel H S, Marson, Daniel, Berg, Daniela, Harvey, Danielle, Jennings, Danna, Ford, Judith M, Wolk, David A, Goldstein, David B, Bachman, David, Brooks, David, Clark, David, Geldmacher, David, Hart, David, Holtzman, David, Jones, David, Hibar, Derrek P, Fukunaga, Masaki, Knopman, David, Hewitt, David L, Perry, David, Russell, David, Standaert, David, Winkfield, David, Green, Davis Robert C, Fontaine, Deborah, Miller, Delwyn D, Gessert, Devon, Garrett, Melanie E, Kerwin, Diana, Willeke, Diana, Drost, Dick, Papadopoulos, Dimitri, Rowe, Dominic, Simpson, Donna M, Muni, Donna, Galasko, Douglas, Scharre, Douglas W, Fillmer, Ariane, Ge, Tian, Bartha, Rob, Celmins, Dzintra, Zimmerman, Earl A, Teng, Edmond, Tolosa, Eduardo, Coleman, Edward, Zamrini, Edward, Mitsis, Effie, Finger, Elizabeth, Giddaluru, Sudheer, Oates, Elizabeth, Sosa, Elizabeth, Woo, Ellen, Rogalski, Emily, Lethbridge, Emma, Dooley, Eoin, Foster, Eric, Reiman, Eric M, Quinlan, Erin Burke, Goldman, Aaron L, Franklin, Erin, Heinzen, Erin L, Fletcher, Evan, Sprenger, Fabienne, Crivello, Fabrice, Biondo, Francesca, Parfitt, Francine, Hefti, Franz, Beyer, Frauke, Nees, Frauke, Green, Melissa J, Leonard, Gabriel, Robert, Gabriel, Thai, Gaby, Marshall, Gad A, Barker, Gareth, Conrad, Gary, Tremont, Geoffrey, Bartzokis, George, Groenewold, Nynke A, Hsiung, Ging-Yuek Robin, Malferrari, Giulia, Chiang, Gloria, Pearlson, Godfrey D, Liang, Grace, Jicha, Greg, Sorensen, Greg, Todd, Gretchen, Jimenez, Gustavo, Grotegerd, Dominik, Zare, Habil, Grabe, Hans Jörgen, Vanderswag, Helen, Schmidt, Helena, Venkov, Heli, Lemaitre, Hervé, Gurholt, Tiril P, Grossman, Hillel, Shill, Holly, Soares, Holly, Lin, Honghuang, Capote, Horacio, Bergman, Howard, Chertkow, Howard, Feldman, Howard, Fillit, Howard, Rosen, Howard J, Gutman, Boris A, Koleva, Hristina, Fernandez, Hubert, Garavan, Hugh, Shim, Hyungsub, Grachev, Igor D, Richard, Irene, Filippi, Irina, Rachinsky, Irina, Wurster, Isabel, Lind, Penelope A, Hansell, Narelle K, Mintzer, Jacobo, Ziolkowski, Jaimie, Brewer, James, Lah, James J, Leverenz, James, Becker, James T, Tetrud, James, Singleton-Garvin, Jamika, Egebjerg, Jan, Cellar, Janet S, Harris, Mathew A, Pentilla, Jani, Brosch, Jared R, Tinklenberg, Jared, Karlawish, Jason H, Meyer, Javier Villanueva, Himali, Jayandra J, Poline, Jean-Baptiste, Gunter, Jeff, Kaye, Jeffrey A, Harrison, Marc B, Dalley, Jeffrey, Burns, Jeffrey M, Petrella, Jeffrey R, Mule, Jennifer, Salazar, Jennifer, Rotter, Jerome I, Yesavage, Jerome, Cedarbaum, Jesse, Jiang, Jiyang, Haswell, Courtney C, Allard, Joanne, Lord, Joanne L, Hetelle, Joel, Kwok, John B, Brockington, John, Morris, John C, Hsiao, John, Morris, John, Olichney, John, Trojanowki, John Q, Hauser, Michael, Rogers, John, Seibyl, John, Yankey, Jon, Dubow, Jordan S, Jankovic, Joseph, Quinn, Joseph, Kass, Joseph S, Taylor, Joy L, Heidebrink, Judith L, Herms, Stefan, Trollor, Julian, Fröhner, Juliane, Anderson, Karen, Blank, Karen, Crawford, Karen, Smith, Karen Ekstam, Bell, Karen L, Williams, Karen, Kieburtz, Karl, Heslenfeld, Dirk J, Gauss, Katharina, Gloer, Katherine, Johnson, Kathleen, Tingus, Kathleen, DeMarco, Kathryn, Sink, Kaycee M, Hawkins, Keith A, Johnson, Keith A, Kantarci, Kejal, Ho, New Fei, Faber, Kelley, Harless, Kelly, Makino, Kelly M, Marek, Kenneth, Spicer, Kenneth, Shianna, Kevin, Chen, Kewei, Nam, Ki Won, Martin, Kim, Poki-Walker, Kim, Hoehn, David, Seppi, Klaus, Johnson, Kris, Fargher, Kristin, Lipowski, Kristine, Espay, Kristy, Womack, Kyle, Chahine, Lama, Flashman, Laura A, Daedelow, Laura, Hoffmann, Per, Leary, Laura, Beckett, Laurel, Honig, Lawrence S, Thal, Leon, Shaw, Leslie M, Kuller, Lew, Apostolova, Liana, Teodoro, Liberty, Rees, Linda, Pizzagalli, Fabrizio, Holleran, Laurena, Lewis, Lindsay, Hergesheimer, Lindsey, Silbert, Lisa C, Ravdin, Lisa, Taylor-Reinwald, Lisa, Uribe, Liz, Schneider, Lon S, Daiello, Lori A, Richer, Louis, Poustka, Luise, Hoogman, Martine, Pirpamer, Lukas, Mesulam, M Marcel, Ismail, M Saleem, Ranola, Madelaine, Korecka, Magdalena, Raichle, Marc, Seltzer, Marc, van der Brug, Marcel, Hottenga, Jouke-Jan, Mesulam, Marek-Marsel, Carrillo, Maria, Carroll, Maria, Knol, Maria J, Kataki, Maria, Greig-Custo, Maria T, Paillere, Marie-Laure, Albert, Marilyn, Love, Marissa Natelson, Ikeda, Masashi, Mintun, Mark A, Frasier, Mark, Logue, Mark, Minton, Mark, Loeffler, Markus, Scholz, Markus, Baca, Marne, Farlow, Martin R, Sadowski, Martin, Janowitz, Deborah, Creech, Mary L, Hynes, Mary L, Quiceno, Mary, Oakley, MaryAnn, Harris, Mat, Senjem, Matt, Bernstein, Matthew, Panizzon, Matthew S, Stern, Matthew, Becerra, Mauricio, Jansen, Iris E, Witbracht, Megan, Vernooij, Meike W, Brandabur, Melanie, Keltz, Melanie, Lamar, Melissa, Yang, Mia, Ahlijanian, Michael, Borrie, Michael, Neale, Michael C, Donohue, Michael, Jia, Tianye, Lyons, Michael J, Lin, Michael, Rapp, Michael, Smolka, Michael, Weiner, Michael W, Weiner, Michael, Figurski, Michal, Perron, Michel, Assaly, Michele, Luciano, Michelle, Jockwitz, Christiane, Rainka, Michelle, Dang, Mimi, Sheikh, Mohammed O, Ghanbari, Mohsen, Gaikwad, Mrunalini, Chowdhury, Munir, Trncic, Nadira, Amin, Najaf, Johnson, Nancy, Kanai, Ryota, Kowalksi, Nancy, Monahan, Nancy, Gillespie, Nathan A, Pacini, Nathaniel, Buckholtz, Neil, Kowall, Neil, Graff-Radford, Neill R, Fox, Nick, Pavese, Nicola, Karama, Sherif, Cairns, Nigel J, Schuff, Norbert, Foster, Norm, Relkin, Norman, Oyonumo, Ntekim E, Pomara, Nunzio, James, Olga, Ogunlana, Olu, Ching, Christopher R K, Kasperaviciute, Dalia, Carmichael, Owen, Doraiswamy, P Murali, Casalin, Paola, Barone, Paolo, Fatica, Parianne, Conrod, Patricia, Johnson, Patricia Lynn, Samuels, Patricia, Aisen, Paul, Malloy, Paul, Kaufmann, Tobias, Thompson, Paul, Ogrocki, Paula, Bezivin-Frere, Pauline, Maillard, Pauline, Fontoura, Paulo, Taylor, Peggy, Hogarth, Penelope, Gowland, Penny, Davies, Peter, Kelly, Sinead, Hardy, Peter, Snyder, Peter J, Snyder, Peter, Amouyel, Philippe, Muglia, Pierandrea, Tariot, Pierre, Lu, Po H, Varma, Pradeep, Vemuri, Prashanthi, Kikuchi, Masataka, Doody, Rachelle S, Carter, Raina, Shah, Raj C, Griffith, Randall, Yeh, Randy, Duara, Ranjan, Tarawneh, Rawan, James, Raymond, Turner, Raymond Scott, Klein, Marieke, Hernando, Raymundo, Silverstein, Rebecca, Sperling, Reisa A, Wilson, Renee, Carson, Richard E, Frank, Richard, El Khouli, Riham, Koeppe, Robert A, Santulli, Robert B, Knapp, Michael, Hauser, Robert, Umek, Robert, Radtke, Rodney, Killiany, Ronald, Petersen, Ronald, Rodriguez, Rosemarie, Miranda, Ruben, Knodt, Annchen R, Bruehl, Ruediger, Xia, Rui, Swerdlow, Russell H, Ottmann, Ruth, Millenet, Sabina, Borges-Neto, Salvador, Frank, Samuel, Black, Sandra, Weintraub, Sandra, Obradov, Sanja, Krämer, Bernd, Asthana, Sanjay, Vaishnavi, Sanjeev, Dolen, Sara, Mason, Sara S, Hohmann, Sarah, Kremen, Sarah, Miller, Sarah, Walter, Sarah, Herring, Scott, Neu, Scott, Lam, Max, Aydin, Semiha, Ahmad, Shahzad, Harlan, Sherry, Sirrel, Sherye A, Lasch, Shirley, Hu, Shu-Ching, Li, Shuo, Kittur, Smita, Chowdhury, Sohini, Lancaster, Thomas M, Pawluczyk, Sonia, Maingault, Sophie, Schneider, Stacy, Seiler, Stephan, Guthrie, Stephanie, Kielb, Stephanie, Reeder, Stephanie, Correia, Stephen, Pasternak, Stephen, McMahon, Mary Agnes B, Lee, Phil H, Salloway, Stephen, Johnson, Sterling, Williams, Steve, Chao, Steven, Arnold, Steven E, Paul, Steven, Potkin, Steven, Factor, Stewart, Isaacson, Stuart, Lett, Tristram A, Kim, Sungeun, Ainscough, Susan, Schultz, Susan K, Landau, Susan, Mendick, Susan, Rountree, Susan, Ostrowizki, Suzanne, Veillette, Suzanne, van der Lee, Sven J, Desrivieres, Sylvane, Lewis, Lindsay B, Lee, T-Y, Simuni, Tanya, Foroud, Tatiana, Foroud, Tatiana M, Wong, Terence Z, Villena, Teresa, Comery, Thomas, Obisesan, Thomas O, Lopes-Cendes, Iscia, Banaschewski, Tobias, Sherer, Todd, Montine, Tom, Paus, Tomáš, Robbins, Trevor, Bromberg, Uli, Völker, Uwe, Pavlik, Valory, Arnedo, Vanessa, Kiyasova, Vera, Bates, Vernice, Logovinsky, Veronika, Sossi, Vesna, Shibley, Victoria, Frouin, Vincent, Lee, Virginia, Poewe, Werner, Jagust, William, Brooks, William M, Macciardi, Fabio, Pavlosky, William, Potter, William, Kremen, William S, Longstreth, William T, Niessen, Wiro J, Jian, Xueqiu, Stern, Yaakov, Saba, Yasaman, Cabrera, Yuliana, Grimmer, Yvonne, Marquand, Andre F, Khachaturian, Zaven, Mari, Zoltan, Mathias, Samuel R, Melzer, Tracy R, Milaneschi, Yuri, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Stochastics, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Mental Health, Science and Society, Cognitive Psychology, IBBA, APH - Personalized Medicine, Complex Trait Genetics, APH - Methodology, Clinical Neuropsychology, Sociology and Social Gerontology, Amsterdam Neuroscience - Complex Trait Genetics, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Neurology, Psychiatry, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Human genetics, APH - Digital Health, Psychology, Precision Medicine Institute of Psychiatry, Child and Adolescent Psychiatry / Psychology, Radiology & Nuclear Medicine, Clinical Genetics, Epidemiology, Medical Informatics, Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Neurodegeneratives Diseases Institute (IMN-UMR CNRS 5293), Centre National de la Recherche Scientifique (CNRS), General Paediatrics, ARD - Amsterdam Reproduction and Development, Direction de Recherche Fondamentale (CEA) (DRF (CEA)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), [SDV]Life Sciences [q-bio], LOCI, Genome-wide association study, Brain mapping, 0302 clinical medicine, Cognition, Cortex (anatomy), ComputingMilieux_MISCELLANEOUS, Cerebral Cortex, 0303 health sciences, Brain Mapping, Multidisciplinary, COMMON VARIANTS, Parkinson Disease, Organ Size, Central sulcus, Magnetic Resonance Imaging, medicine.anatomical_structure, Cerebral cortex, Neuroinformatics, EXPRESSION, endocrine system, central sulcus, SURFACE-AREA, Biology, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic variation, medicine, Attention deficit hyperactivity disorder, Humans, General, Gene, METAANALYSIS, 030304 developmental biology, Progenitor, CORTICAL SULCI, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic variants, Genetic Variation, Attention Deficit Disorder with Hyperactivity, Genetic Loci, Genome-Wide Association Study, functional annotation, medicine.disease, Genetic architecture, 030104 developmental biology, Evolutionary biology, OBSERVER-INDEPENDENT CHARACTERIZATION, Multiple comparisons problem, ddc:320, genome-wide association, Neuroscience, 030217 neurology & neurosurgery
Abstract

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group., The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

Published
2020

40. Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome

Author

Brašić, James R., primary, Nandi, Ayon, additional, Russell, David S., additional, Jennings, Danna, additional, Barret, Olivier, additional, Mathur, Anil, additional, Slifer, Keith, additional, Sedlak, Thomas, additional, Martin, Samuel D., additional, Brinson, Zabecca, additional, Vyas, Pankhuri, additional, Seibyl, John P., additional, Berry-Kravis, Elizabeth M., additional, Wong, Dean F., additional, and Budimirovic, Dejan B., additional

Published
2020
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41. Plasma apolipoprotein A1 as a biomarker for Parkinson disease

Author

Qiang, Judy K., Wong, Yvette C., Siderowf, Andrew, Hurtig, Howard I., Xie, Sharon X., Lee, Virginia M.-Y., Trojanowski, John Q., Yearout, Dora, B. Leverenz, James, Montine, Thomas J., Stern, Matt, Mendick, Susan, Jennings, Danna, Zabetian, Cyrus, Marek, Ken, and Chen-Plotkin, Alice S.

Published
2013
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44. The Parkinson Progression Marker Initiative (PPMI)

Author

Marek, Kenneth, Jennings, Danna, Lasch, Shirley, Siderowf, Andrew, Tanner, Caroline, Simuni, Tanya, Coffey, Chris, Kieburtz, Karl, Flagg, Emily, Chowdhury, Sohini, Poewe, Werner, Mollenhauer, Brit, Klinik, Paracelsus-Elena, Sherer, Todd, Frasier, Mark, Meunier, Claire, Rudolph, Alice, Casaceli, Cindy, Seibyl, John, Mendick, Susan, Schuff, Norbert, Zhang, Ying, Toga, Arthur, Crawford, Karen, Ansbach, Alison, De Blasio, Pasquale, Piovella, Michele, Trojanowski, John, Shaw, Les, Singleton, Andrew, Hawkins, Keith, Eberling, Jamie, Brooks, Deborah, Russell, David, Leary, Laura, Factor, Stewart, Sommerfeld, Barbara, Hogarth, Penelope, Pighetti, Emily, Williams, Karen, Standaert, David, Guthrie, Stephanie, Hauser, Robert, Delgado, Holly, Jankovic, Joseph, Hunter, Christine, Stern, Matthew, Tran, Baochan, Leverenz, Jim, Baca, Marne, Frank, Sam, Thomas, Cathi-Ann, Richard, Irene, Deeley, Cheryl, Rees, Linda, Sprenger, Fabienne, Lang, Elisabeth, Shill, Holly, Obradov, Sanja, Fernandez, Hubert, Winters, Adrienna, Berg, Daniela, Gauss, Katharina, Galasko, Douglas, Fontaine, Deborah, Mari, Zoltan, Gerstenhaber, Melissa, Brooks, David, Malloy, Sophie, Barone, Paolo, Longo, Katia, Comery, Tom, Ravina, Bernard, Grachev, Igor, Gallagher, Kim, Collins, Michelle, Widnell, Katherine L., Ostrowizki, Suzanne, Fontoura, Paulo, Ho, Tony, Luthman, Johan, Brug, Marcel van der, Reith, Alastair D., and Taylor, Peggy

Published
2011
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46. Feasibility and safety of lumbar puncture in the Parkinson's disease research participants: Parkinson's Progression Marker Initiative (PPMI)

Author

Marek, Kenneth, Siderowf, Andrew, Seibyl, John, Coffey, Christopher, Tanner, Caroline, Tosun-Turgut, Duygu, Simuni, Tanya, Shaw, Leslie, Trojanowski, John, Singleton, Andrew, Kieburtz, Karl, Toga, Arthur, Mollenhauer, Brit, Galasko, Douglas, Poewe, Werner, Foroud, Tatiana, Poston, Kathleen, Sherer, Todd, Chowdhury, Sohini, Frasier, Mark, Kopil, Catherine, Arnedo, Vanessa, Daegele, Nichole, Casaceli, Cynthia, Dorsey, Ray, Wilson, Renee, Mahes, Sugi, Salerno, Christina, Caspell-Garcia, Chelsea, Crawford, Karen, Casalin, Paola, Malferrari, Giulia, Weisz, Mali Gani, Orr-Urtreger, Avi, Montine, Thomas, Russell, David, Dahodwala, Nabila, Giladi, Nir, Factor, Stewart, Hogarth, Penelope, Standaert, David, Hauser, Robert, Jankovic, Joseph, Saint-Hilaire, Marie, Richard, Irene, Shprecher, David, Fernandez, Hubert, Brockmann, Katrina, Rosenthal, Liana, Barone, Paolo, Espay, Alberto, Rowe, Dominic, Marder, Karen, Santiago, Anthony, Bressman, Susan, Hu, Shu-Ching, Isaacson, Stuart, Corvol, Jean-Christophe, Martinez, Javiar Ruiz, Tolosa, Eduardo, Tai, Yen, Politis, Marios, Smejdir, Debra, Rees, Linda, Williams, Karen, Kausar, Farah, Richardson, Whitney, Willeke, Diana, Peacock, Shawnees, Heim, Beatrice, Mirelman, Anat, Sommerfeld, Barbara, Freed, Alison, Wakeman, Katrina, Blair, Courtney, Guthrie, Stephanie, Harrell, Leigh, Hunter, Christine, Thomas, Cathi-Ann, James, Raymond, Zimmerman, Grace, Brown, Victoria, Mule, Jennifer, Hilt, Ella, Ribb, Kori, Ainscough, Susan, Wethington, Misty, Ranola, Madelaine, Santana, Helen Mejia, Moreno, Juliana, Raymond, Deborah, Speketer, Krista, Carvajal, Lisbeth, Carvalho, Stephanie, Croitoru, Ioana, Garrido, Alicia, Payne, Laura Marie, Viswanth, Veena, Severt, Lawrence, Facheris, Maurizio, Soares, Holly, Mintun, Mark A., Cedarbaum, Jesse, Taylor, Peggy, Biglan, Kevin, Vandenbroucke, Emily, Sheikh, Zulfiqar Haider, Bingol, Baris, Fischer, Tanya, Sardi, Pablo, Forrat, Remi, Reith, Alastair, Egebjerg, Jan, Hillert, Gabrielle Ahlberg, Saba, Barbara, Min, Chris, Umek, Robert, Mather, Joe, De Santi, Susan, Post, Anke, Boess, Frank, Taylor, Kirsten, Grachev, Igor, Avbersek, Andreja, Muglia, Pierandrea, Merchant, Kaplana, Tauscher, Johannes, Prakash, Neha, Tanner, Caroline M., Merchant, Kalpana, Chahine, Lana M., Weintraub, Daniel, Casaceli, Cindy, Herzog, Margaret, Marek, Ken, Frank, Samuel, and Jennings, Danna

Published
2019
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49. Frequency of Known Mutations in Early-Onset Parkinson Disease: Implication for Genetic Counseling: The Consortium on Risk for Early Onset Parkinson Disease Study

Author

Alcalay, Roy N., Caccappolo, Elise, Mejia-Santana, Helen, Tang, Ming Xin, Rosado, Llency, Ross, Barbara M., Verbitsky, Miguel, Kisselev, Sergey, Louis, Elan D., Comella, Cynthia, Colcher, Amy, Jennings, Danna, Nance, Martha A., Bressman, Susan B., Scott, William K., Tanner, Caroline, Mickel, Susan, Andrews, Howard, Waters, Cheryl, Fahn, Stanley, Cote, Lucien, Frucht, Steven, Ford, Blair, Rezak, Michael, Novak, Kevin, Friedman, Joseph H., Pfeiffer, Ronald, Marsh, Laura, Hiner, Bradley, Siderowf, Andrew, Ottman, Ruth, Marder, Karen, and Clark, Lorraine N.

Published
2010

50. Predictors of Parkin Mutations in Early-Onset Parkinson Disease: The Consortium on Risk for Early-Onset Parkinson Disease Study

Author

Marder, Karen S., Tang, Ming X., Mejia-Santana, Helen, Rosado, Llency, Louis, Elan D., Comella, Cynthia L., Colcher, Amy, Siderowf, Andrew D., Jennings, Danna, Nance, Martha A., Bressman, Susan, Scott, William K., Tanner, Caroline M., Mickel, Susan F., Andrews, Howard F., Waters, Cheryl, Fahn, Stanley, Ross, Barbara M., Cote, Lucien J., Frucht, Steven, Ford, Blair, Alcalay, Roy N., Rezak, Michael, Novak, Kevin, Friedman, Joseph H., Pfeiffer, Ronald F., Marsh, Laura, Hiner, Brad, Neils, Gregory D., Verbitsky, Miguel, Kisselev, Sergey, Caccappolo, Elise, Ottman, Ruth, and Clark, Lorraine N.

Published
2010

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