Search

Your search keyword '"McCusker, Elizabeth"' showing total 235 results
Start Over Author "McCusker, Elizabeth" Publication Year Range Last 50 years
235 results on '"McCusker, Elizabeth"'

1. Loss

Author

McCusker, Elizabeth

Published
2024

3. A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease

Author

McGarry, Andrew, McDermott, Michael, Kieburtz, Karl, de Blieck, Elisabeth A, Beal, Flint, Marder, Karen, Ross, Christopher, Shoulson, Ira, Gilbert, Peter, Mallonee, William M, Guttman, Mark, Wojcieszek, Joanne, Kumar, Rajeev, LeDoux, Mark S, Jenkins, Mary, Rosas, H Diana, Nance, Martha, Biglan, Kevin, Como, Peter, Dubinsky, Richard M, Shannon, Kathleen M, O'Suilleabhain, Padraig, Chou, Kelvin, Walker, Francis, Martin, Wayne, Wheelock, Vicki L, McCusker, Elizabeth, Jankovic, Joseph, Singer, Carlos, Sanchez-Ramos, Juan, Scott, Burton, Suchowersky, Oksana, Factor, Stewart A, Higgins, Donald S, Molho, Eric, Revilla, Fredy, Caviness, John N, Friedman, Joseph H, Perlmutter, Joel S, Feigin, Andrew, Anderson, Karen, Rodriguez, Ramon, McFarland, Nikolaus R, Margolis, Russell L, Farbman, Eric S, Raymond, Lynn A, Suski, Valerie, Kostyk, Sandra, Colcher, Amy, Seeberger, Lauren, Epping, Eric, Esmail, Sherali, Diaz, Nancy, Fung, Wai Lun Alan, Diamond, Alan, Frank, Samuel, Hanna, Philip, Hermanowicz, Neal, Dure, Leon S, and Cudkowicz, Merit

Subjects
Clinical Research, Clinical Trials and Supportive Activities, Huntington's Disease, Nutrition, Neurodegenerative, Neurosciences, Brain Disorders, Rare Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Australia, Canada, Double-Blind Method, Female, Humans, Huntington Disease, International Cooperation, Male, Middle Aged, Proportional Hazards Models, Retrospective Studies, Treatment Outcome, Ubiquinone, United States, Vitamins, Huntington Study Group 2CARE Investigators and Coordinators, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow the progressive functional decline of HD.MethodsWe performed a multicenter randomized, double-blind, placebo-controlled trial. Patients with early-stage HD (n = 609) were enrolled at 48 sites in the United States, Canada, and Australia from 2008 to 2012. Patients were randomized to receive either CoQ 2,400 mg/d or matching placebo, then followed for 60 months. The primary outcome variable was the change from baseline to month 60 in Total Functional Capacity score (for patients who survived) combined with time to death (for patients who died) analyzed using a joint-rank analysis approach.ResultsAn interim analysis for futility revealed a conditional power of

Published
2017

4. Multivariate clustering of progression profiles reveals different depression patterns in prodromal Huntington disease.

Author

Kim, Ji-in, Long, Jeffrey D, Mills, James A, McCusker, Elizabeth, Paulsen, Jane S, and PREDICT-HD Investigators and Coordinators of the Huntington Study Group

Subjects
PREDICT-HD Investigators and Coordinators of the Huntington Study Group, Humans, Huntington Disease, Disease Progression, Cluster Analysis, Longitudinal Studies, Depression, Adult, Middle Aged, Female, Male, Prodromal Symptoms, Neurosciences, Mental Health, Huntington's Disease, Neurodegenerative, Brain Disorders, Rare Diseases, Clinical Research, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Mental health, Psychology, Cognitive Sciences, Experimental Psychology
Abstract

ObjectiveAlthough Huntington disease (HD) is caused by an autosomal dominant mutation, its phenotypic presentation differs widely. Variability in clinical phenotypes of HD may reflect the existence of disease subtypes. This hypothesis was tested in prodromal participants from the longitudinal Neurobiological Predictors of Huntington Disease (PREDICT-HD) study.MethodWe performed clustering using longitudinal data assessing motor, cognitive, and depression symptoms. Using data from 521 participants with 2,716 data points, we fit growth mixture models (GMM) that identify groups based on multivariate trajectories.ResultsIn various GMM, different phases of disease progression were partitioned by progression trajectories of motor and cognitive signs, and by overall level of depression symptoms. More progressed motor signs were accompanied by more progressed cognitive signs, but not always by higher levels of depressive symptoms. In several models, there were at least 2 groups with similar trajectories for motor and cognitive signs that showed different levels for depression symptoms-one with a very low level of depression and the other with a higher level of depression.ConclusionsFindings indicate that at least intermediate HD progression might be associated with different levels of depression. Depression is one of the few symptoms that is treatable in HD and has implications for clinical care. Identification of potential depression subtypes may also help to select appropriate patients for clinical trials.

Published
2015

6. Clinical and Biomarker Changes in Premanifest Huntington Disease Show Trial Feasibility: A Decade of the PREDICT-HD Study.

Author

Paulsen, Jane S, Long, Jeffrey D, Johnson, Hans J, Aylward, Elizabeth H, Ross, Christopher A, Williams, Janet K, Nance, Martha A, Erwin, Cheryl J, Westervelt, Holly J, Harrington, Deborah L, Bockholt, H Jeremy, Zhang, Ying, McCusker, Elizabeth A, Chiu, Edmond M, Panegyres, Peter K, and PREDICT-HD Investigators and Coordinators of the Huntington Study Group

Subjects
PREDICT-HD Investigators and Coordinators of the Huntington Study Group, Huntington disease, PREDICT-HD, clinical trials, natural history, neurodegenerative disorders, outcome measures, premanifest, Huntington's Disease, Brain Disorders, Neurosciences, Prevention, Rare Diseases, Clinical Research, Neurodegenerative, Clinical Trials and Supportive Activities, Neurological, Biochemistry and Cell Biology, Cognitive Sciences
Abstract

There is growing consensus that intervention and treatment of Huntington disease (HD) should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative disease have been identified, but preventive clinical trials for HD are limited by a lack of knowledge of the natural history of the disease and a dearth of appropriate outcome measures. Objectives of the current study are to document the natural history of premanifest HD progression in the largest cohort ever studied and to develop a battery of imaging and clinical markers of premanifest HD progression that can be used as outcome measures in preventive clinical trials. Neurobiological predictors of Huntington's disease is a 32-site, international, observational study of premanifest HD, with annual examination of 1013 participants with premanifest HD and 301 gene-expansion negative controls between 2001 and 2012. Findings document 39 variables representing imaging, motor, cognitive, functional, and psychiatric domains, showing different rates of decline between premanifest HD and controls. Required sample size and models of premanifest HD are presented to inform future design of clinical and preclinical research. Preventive clinical trials in premanifest HD with participants who have a medium or high probability of motor onset are calculated to be as resource-effective as those conducted in diagnosed HD and could interrupt disease 7-12 years earlier. Methods and measures for preventive clinical trials in premanifest HD more than a dozen years from motor onset are also feasible. These findings represent the most thorough documentation of a clinical battery for experimental therapeutics in stages of premanifest HD, the time period for which effective intervention may provide the most positive possible outcome for patients and their families affected by this devastating disease.

Published
2014

10. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

Author

Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John, Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, and Christodoulou, John

Abstract

Background and Objectives The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the ANO10 gene. Little is known about the molecular role of ANO10 or its role in disease. There is a wide phenotypic spectrum among patients, even among those with the same or similar genetic variants. This study aimed to characterize the molecular consequences of variants in ANO10 and determine their pathologic significance in patients diagnosed with SCAR10. Methods We presented 4 patients from 4 families diagnosed with spinocerebellar ataxia with potential pathogenic variants in the ANO10 gene. Patients underwent either clinical whole-exome sequencing or screening of a panel of known neuromuscular disease genes. Effects on splicing were studied using reverse transcriptase PCR to analyze complementary DNA. Western blots were used to examine protein expression. Results One individual who presented clinically at a much earlier age than typical was homozygous for an ANO10 variant (c.1864A > G [p.Met622Val]) that produces 2 transcription products by altering an exonic enhancer site. Two patients, both of Lebanese descent, had a homozygous intronic splicing variant in ANO10 (c.1163-9A > G) that introduced a cryptic splice site acceptor, producing 2 alternative transcription products and no detectable wild-type protein. Both these variants have not yet been associated with SCAR10. The remaining patient was found to have compound heterozygous variants in ANO10 previously associated with SCAR10 (c.132dupA [p.Asp45Argfs*9] and c.1537T > C [p.Cys513Arg]). Discussion We presented rare pathogenic variants adding to the growing list of ANO10 variants associated with SCAR10. In addition, we described an individual with a much earlier age at onset than usually associated with ANO

Published
2023

11. Expanding the Allelic Heterogeneity ofANO10-Associated Autosomal Recessive Cerebellar Ataxia

Author

Massey, Sean, primary, Guo, Yiran, additional, Riley, Lisa G., additional, Van Bergen, Nicole J., additional, Sandaradura, Sarah A., additional, McCusker, Elizabeth, additional, Tchan, Michel, additional, Thauvin-Robinet, Christel, additional, Thomas, Quentin, additional, Moreau, Thibault, additional, Davis, Mark, additional, Smits, Daphne, additional, Mancini, Grazia M.S., additional, Hakonarson, Hakon, additional, Cooper, Sandra, additional, and Christodoulou, John, additional

Published
2023
Full Text
View/download PDF

17. Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

Author

Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., and Gusella, James F.

Published
2012
Full Text
View/download PDF

18. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

Author

Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., and MacDonald, Marcy E.

Published
2013
Full Text
View/download PDF

19. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Author

Ramos, Eliana Marisa, Latourelle, Jeanne C., Lee, Ji-Hyun, Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., and MacDonald, Marcy E.

Published
2012
Full Text
View/download PDF

22. End of life

Author

Masdeu, Joseph C., Aksamit, Allen J., Carver, Alan C., Foley, Kathleen M., Kass, Joseph S., Martin, Raymond A., McCusker, Elizabeth A., McQuillen, Michael P., Mehanna, Raja, Payne, Richard, Victor, Stephen J., and Warach, Steven

Subjects
Special Editorial
Abstract

In legal physician-hastened death, a physician prescribes medication with the primary intent of causing the death of a willing terminally ill patient. This practice differs radically from palliative sedation, intended to relieve a patient's suffering rather than cause a patient's death. In this position paper, we argue that the practice of physician-hastened death is contrary to the interests of patients, their families, and the sound ethical practice of medicine. Therefore, the American Academy of Neurology should advise its members against this practice, as it had done until 2018.

Published
2019

23. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

Author

Djoussé, Luc, Knowlton, Beth, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Ross, Christopher A., Margolis, Russel L., Rosenblatt, Adam, Durr, Alexandra, Dode, Catherine, Morrison, Patrick J., Novelletto, Andrea, Frontali, Marina, Trent, Ronald J. A., McCusker, Elizabeth, Gómez-Tortosa, Estrella, Mayo Cabrero, David, Jones, Randi, Zanko, Andrea, Nance, Martha, Abramson, Ruth K., Suchowersky, Oksana, Paulsen, Jane S., Harrison, Madaline B., Yang, Qiong, Cupples, L. Adrienne, Mysore, Jayalakshmi, Gusella, James F., MacDonald, Marcy E., and Myers, Richard H.

Published
2004
Full Text
View/download PDF

24. A genome scan for modifiers of age at onset in Huntington disease: the HD MAPS study

Author

Li, Jian-Liang, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Durr, Alexandra, Dode, Catherine, Morrison, Patrick J., Suchowersky, Oksana, Ross, Christopher A., Margolis, Russell L., Rosenblatt, Adam, Gomez-Tortosa, Estrella, Cabrero, David Mayo, Noveletto, Andrea, Frontali, Marina, Nance, Martha, Trent, Ronald J.A., McCusker, Elizabeth, Jones, Randi, Paulsen, Jane S., Harrison, Madeline, Zanko, Andrea, Abramson, Ruth K., Russ, Ana L., Knowlton, Beth, Djousse, Luc, Mysore, Jayalakshmi S., Tariot, Suzanne, Gusella, Michael F., Wheeler, Vanessa C., Atwood, Larry D., Cupples, Adrienne L., Saint-Hilaire, Marie, Cha, Jang-Ho J., Herch, Steven M., Koroshetz, Walter J., Gusella, James F., MacDonald, Marcy E., and Myers, Richard H.

Subjects
Gene mutations -- Physiological aspects, Cognition disorders -- Health aspects, Cognition disorders -- Causes of, Cognition disorders -- Genetic aspects, Mental illness -- Health aspects, Mental illness -- Causes of, Mental illness -- Genetic aspects, Huntington's chorea -- Genetic aspects, Huntington's chorea -- Health aspects, Human genetics -- Research, Biological sciences
Published
2003

25. Isolated Craniocervical Dystonia Without Initial Neuropsychiatric Manifestations Associated with NMDA‐Receptor Antibodies.

Author

Waller, Sophie E., Williams, Laura, Lee, Adrian Y.S., Lin, Ming‐Wei, McCusker, Elizabeth, Morales‐Briceño, Hugo, and Fung, Victor S.C.

Subjects
MOVEMENT disorders, ANTI-NMDA receptor encephalitis, DYSTONIA, IMMUNOGLOBULINS, INFORMED consent (Medical law)
Abstract

Isolated Craniocervical Dystonia Without Initial Neuropsychiatric Manifestations Associated with NMDA-Receptor Antibodies We describe a patient presenting with isolated craniocervical dystonia and serum and cerebrospinal fluid (CSF) NMDAR antibody positivity, without other manifestations of encephalitis at presentation. Keywords: NMDA; craniocervical dystonia; autoimmune encephalitis EN NMDA craniocervical dystonia autoimmune encephalitis 680 682 3 04/18/23 20230401 NES 230401 N-methyl-D-aspartate receptor (NMDAR) encephalitis classically manifests as varying combinations of neuropsychiatric disturbance, autonomic dysfunction, hypoventilation, and salient movement disorders. [Extracted from the article]

Published
2023
Full Text
View/download PDF

27. Prevalence of Huntington disease in New South Wales in 1996

Author

McCusker, Elizabeth A., Casse, Reynolds F., Graham, Shanthi J., Williams, David B., and Lazarus, Ross

Subjects
Huntington's chorea -- Research, Health
Abstract

The prevalence of Huntington disease in New South Wales was estimated in 1996.

Published
2000

28. Design and synthesis of florylpicoxamid, a fungicide derived from renewable raw materials

Author

Babij, Nicholas R., primary, Choy, Nakyen, additional, Cismesia, Megan A., additional, Couling, David J., additional, Hough, Nicole M., additional, Johnson, Peter L., additional, Klosin, Jerzy, additional, Li, Xiaoyong, additional, Lu, Yu, additional, McCusker, Elizabeth O., additional, Meyer, Kevin G., additional, Renga, James M., additional, Rogers, Richard B., additional, Stockman, Kenneth E., additional, Webb, Nicola J., additional, Whiteker, Gregory T., additional, and Zhu, Yuanming, additional

Published
2020
Full Text
View/download PDF

29. Movement Disorder Society Task Force Viewpoint: Huntington's Disease Diagnostic Categories

Author

Ross, Christopher A., primary, Reilmann, Ralf, additional, Cardoso, Francisco, additional, McCusker, Elizabeth A., additional, Testa, Claudia M., additional, Stout, Julie C., additional, Leavitt, Blair R., additional, Pei, Zhong, additional, Landwehrmeyer, Bernhard, additional, Martinez, Asuncion, additional, Levey, Jamie, additional, Srajer, Teresa, additional, Bang, Jee, additional, and Tabrizi, Sarah J., additional

Published
2019
Full Text
View/download PDF

32. Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

Author

Gillis Tammy, Mysore Jayalakshmi, Djoussé Luc, Xu Gang, Prakash Ranjana, Wheeler Vanessa C, Lazzarini Alice, Ashizawa Tetsuo, Jones Randi, Paulsen Jane S, Frontali Marina, Novelletto Andrea, McCusker Elizabeth, Trent Ronald JA, Klimek Mary, Suchowersky Oksana, García Carmen, Gómez-Tortosa Estrella, Frati Luigi, Squitieri Ferdinando, Rosenblatt Adam, Margolis Russell L, Ross Christopher A, Nance Martha, Morrison Patrick J, Durr Alexandra, Warby Simon C, Hayden Michael R, Li Jian-Liang, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, and Myers Richard H

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD. Methods In order to test the replication of this finding, eighteen microsatellite markers, three from each of the six genomic regions, were genotyped in 102 newly recruited sibling pairs from 69 pedigrees, and data were analyzed, using a multipoint linkage variance component method, in the follow-up sample and the combined sample of 352 pedigrees with 753 sibling pairs. Results Suggestive evidence for linkage at 6q23-24 in the follow-up sample (LOD = 1.87, p = 0.002) increased to genome-wide significance for linkage in the combined sample (LOD = 4.05, p = 0.00001), while suggestive evidence for linkage was observed at 18q22, in both the follow-up sample (LOD = 0.79, p = 0.03) and the combined sample (LOD = 1.78, p = 0.002). Epistatic analysis indicated that there is no interaction between 6q23-24 and other loci. Conclusion In this replication study, linkage for modifier of age at onset in HD was confirmed at 6q23-24. Evidence for linkage was also found at 18q22. The demonstration of statistically significant linkage to a potential modifier locus opens the path to location cloning of a gene capable of altering HD pathogenesis, which could provide a validated target for therapeutic development in the human patient.

Published
2006
Full Text
View/download PDF

34. Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing

Author

McCusker, Elizabeth and Loy, Clement T.

Subjects
Physician-Patient Relations, Cognition disorders, lcsh:Diseases of the musculoskeletal system, diagnosis, premanifest, Huntington's disease, Disclosure, Medical ethics, Truth Disclosure, lcsh:RC346-429, Viewpoints, Huntington Disease, Humans, Genetic disorders--Diagnosis, lcsh:RC925-935, lcsh:Neurology. Diseases of the nervous system
Abstract

The management of patients and families affected by Huntington disease (HD) is complicated by several factors, both practical and ethical. It can be difficult to determine the onset of clinically manifest HD (mHD). In addition, it can be challenging to decide when to disclose the diagnosis to the affected individual. Firstly, the features of HD, an incurable, inherited, neurocognitive disorder that often manifests in young adulthood, influence how the person presents and accepts a diagnosis. Secondly, a positive genetic test for HD may result in a genetic diagnosis, sometimes years before the development of clinical features and the diagnosis of mHD. Thirdly, observational studies of unaffected gene expansion carriers documented HD manifestations up to 10 years before the typical presentation for diagnosis. These developments may permit earlier genetic diagnosis and information regarding the patient’s likely status with respect to the development of clinical disease. Making the genetic diagnosis of HD and providing information regarding disease status, earlier rather than later, respects the person’s right to know and preserves honesty in the doctor/patient relationship. Conversely, delaying the diagnosis respects the right not to know, avoids potential discrimination, and permits the person to live a “normal” life for longer, in the context of a disease without cure. This discussion has implications for other inherited and neurocognitive disorders., Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements

Published
2017

38. The specialist neurologist and the 'new genetics'

Author

McCusker, Elizabeth A.

Subjects
Genetics -- Research, Neurologists -- Practice, Health
Abstract

The 'new genetics' requires specialist physicians to deal with an increasing number of genetic issues, and for optimal use of the new genetics, a team approach is essential to ensure that all areas of expertise are covered. It is found that the specialist physician is well positioned to interact with the genetics services by providing in-depth knowledge of the clinical implications.

Published
2003

40. Longitudinal Psychiatric Symptoms Progress in Prodromal Huntington Disease: a Decade of Data

Author

Epping, Eric A., Kim, Ji-In, Craufurd, David, Brashers-Krug, Thomas M., Anderson, Karen E., McCusker, Elizabeth, Luther, Jolene, Long, Jeffrey D., and Paulsen, Jane S.

Subjects
Adult, Male, Depression, Prodromal Symptoms, Anxiety, Middle Aged, Article, Proxy, Huntington Disease, Phobic Disorders, Psychotic Disorders, Hostility, Case-Control Studies, Compulsive Behavior, Disease Progression, Linear Models, Humans, Female, Interpersonal Relations, Longitudinal Studies, Prospective Studies, Self Report, Obsessive Behavior, Somatoform Disorders
Abstract

Psychiatric symptoms are a significant aspect of Huntington's disease, an inherited neurodegenerative illness. The presentation of these symptoms is highly variable, and their course does not fully correlate with motor or cognitive disease progression. The authors sought to better understand the development and longitudinal course of psychiatric manifestations in individuals who carry the Huntington's disease mutation, starting from the prodromal period prior to motor diagnosis.Longitudinal measures for up to 10 years of psychiatric symptoms from the Symptom Checklist-90-Revised were obtained from 1,305 participants (1,007 carrying the Huntington's disease mutation and 298 without [classified as controls]) and 1,235 companions enrolled in the Neurobiological Predictors of Huntington's Disease (PREDICT-HD) study. Participants with the mutation were stratified into three groups according to probability of motor diagnosis within 5 years. Using linear mixed-effects regression models, differences in psychiatric symptoms at baseline and over time between the mutation-positive groups and the controls were compared, as well as between ratings by mutation-positive participants and their companions.Nineteen of 24 psychiatric measures (12 participant ratings and 12 companion ratings) were significantly higher at baseline and showed significant increases longitudinally in the individuals with the Huntington's disease mutation compared with controls. The differences were greatest in comparisons of symptom reports from companions compared with self-reports, especially in participants who were closest to motor diagnosis.The results indicate that psychiatric manifestations develop more often than previously thought in the Huntington's disease prodrome. Symptoms also increase with progression of disease severity. Greater symptom ratings by companions than by mutation-positive participants suggest decreasing awareness in those affected.

Published
2015

42. NMR Chemical Shifts of Trace Impurities: Industrially Preferred Solvents Used in Process and Green Chemistry

Author

Babij, Nicholas R., primary, McCusker, Elizabeth O., additional, Whiteker, Gregory T., additional, Canturk, Belgin, additional, Choy, Nakyen, additional, Creemer, Lawrence C., additional, Amicis, Carl V. De, additional, Hewlett, Nicole M., additional, Johnson, Peter L., additional, Knobelsdorf, James A., additional, Li, Fangzheng, additional, Lorsbach, Beth A., additional, Nugent, Benjamin M., additional, Ryan, Sarah J., additional, Smith, Michelle R., additional, and Yang, Qiang, additional

Published
2016
Full Text
View/download PDF

44. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease

Author

Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Bernhard Landwehrmeyer, G., Shoulson, Ira, Myers, Richard H., MacDonald, Marcy E., and Gusella, James F.

Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results