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106. Influence of Heterozygosity for Parkin Mutation on Onset Age in Familial Parkinson Disease: The GenePD Study

Author

Sun, Mei, Latourelle, Jeanne C., Wooten, G. Frederick, Lew, Mark F., Klein, Christine, Shill, Holly A., Golbe, Lawrence I., Mark, Margery H., Racette, Brad A., Perlmutter, Joel S., Parsian, Abbas, Guttman, Mark, Nicholson, Garth, Xu, Gang, Wilk, Jemma B., Saint-Hilaire, Marie H., DeStefano, Anita L., Prakash, Ranjana, Williamson, Sally, Suchowersky, Oksana, Labelle, Nancy, Growdon, John H., Singer, Carlos, Watts, Ray L., Goldwurm, Stefano, Pezzoli, Gianni, Baker, Kenneth B., Pramstaller, Peter P., Burn, David J., Chinnery, Patrick F., Sherman, Scott, Vieregge, Peter, Litvan, Irene, Gillis, Tammy, MacDonald, Marcy E., Myers, Richard H., and Gusella, James F.

Published
2006

113. Absence of Previously Reported Variants in the Scna (G88c and G209a), Nr4a2 (T291d and T245g) and the Dj-1 (T497c) Genes in Familial Parkinsonʼs Disease From the GenePd Study

Author

Karamohamed, Samer, Golbe, L. I., Mark, M. H., Lazzarini, A. M., Suchowersky, O., Labelle, N., Guttman, Mark, Currie, L. J., Wooten, G. F., Stacy, M., Saint-Hilaire, M., Feldman, R. G., Liu, J., Shoemaker, C. M., Wilk, J. B., DeStefano, A. L., Latourelle, J. C., Xu, G., Watts, R., Growdon, J., Lew, M., Waters, C., Vieregge, P., Pramstaller, P. P., Klein, C., Racette, B. A., Perlmutter, J. S., Parsian, A., Singer, Carlos, Montgomery, E., Baker, K., Gusella, J. F., Herbert, A., and Myers, R. H.

Published
2005
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121. Safinamide in the management of patients with Parkinson’s disease not stabilized on levodopa: a review of the current clinical evidence

Author

Bette,Sagari, Shpiner,Danielle S, Singer,Carlos, and Moore,Henry

Subjects
Therapeutics and Clinical Risk Management
Abstract

Sagari Bette, Danielle S Shpiner, Carlos Singer, Henry Moore Department of Neurology, Division of Parkinson’s Disease and Movement Disorders, University of Miami – Miller School of Medicine, Miami, FL, USA Abstract: Safinamide (Xadago®) is a novel medication with both dopaminergic and non-dopaminergic effects, approved first by the European Commission and more recently by the US Food and Drug Administration (FDA) as an adjunctive treatment to carbidopa/levodopa in patients with mid- to late-stage Parkinson’s disease (PD) and motor fluctuations. It works through multiple mechanisms, namely as a reversible selective monoamine oxidase-B inhibitor and through modulation of glutamate release. Safinamide is extensively metabolized via oxidation to several inactive metabolites that are excreted primarily through the urine. Several large Phase III clinical trials of patients with advanced PD with motor fluctuations have shown that safinamide, administered orally at doses of 50–100mg daily, increased ON time with no or non-troublesome dyskinesia, decreased daily OFF time, improved overall motor function (as measured by Unified Parkinson’s Disease Rating Scale [UPDRS] part III total score), and quality of life (as measured by Clinical Global Impression-Change and 39-item Parkinson’s Disease Questionnaire). In large clinical trials of patients with early PD on a single dopamine agonist, safinamide administered orally at a dose of 100mg daily improved overall motor function as measured by UPDRS part III total score; however, some of the results reported were exploratory. Safinamide is generally well-tolerated and safe, with few to no treatment-related adverse events. Safinamide does not cause new or worsening dyskinesia and may be able to reduce this symptom in patients reporting it at baseline. Evidence suggests that safinamide is a good option for add-on therapy to carbidopa/levodopa in patients with advanced PD with motor complications, but there is still insufficient evidence to recommend it as monotherapy or add-on therapy in patients with early PD. Keywords: Parkinson’s disease, safinamide, MAO-B inhibitor, motor fluctuations, dyskinesia

Published
2018

128. The Parkinson's Disease Sleep Scale–2 (PDSS‐2): Validation of the Spanish Version and Its Relationship With a Roommate‐Based Version

Author

Martinez‐Martin, Pablo, primary, Wetmore, John B., additional, Rodríguez‐Blázquez, Carmen, additional, Arakaki, Tomoko, additional, Bernal, Oscar, additional, Campos‐Arillo, Victor, additional, Cerda, Christopher, additional, Estrada‐Bellmann, Ingrid, additional, Garretto, Nélida, additional, Ginsburg, Letty, additional, Máñez‐Miró, Jorge Uriel, additional, Martínez‐Castrillo, Juan Carlos, additional, Pedroso, Ivonne, additional, Serrano‐Dueñas, Marcos, additional, Singer, Carlos, additional, Rodríguez‐Violante, Mayela, additional, and Vivancos, Francisco, additional

Published
2019
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129. Dancing Dorsal Quadrilaterals

Author

Lizarraga, Karlo J., primary, Thompson, Philip D., additional, Moore, Henry P., additional, Mizraji, Gabriel, additional, Gershanik, Oscar S., additional, Singer, Carlos, additional, and Lang, Anthony E., additional

Published
2019
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133. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

Author

Corbett Alastair, Nicholson Garth, Litvan Irene, Itin Ilia, Baker Kenneth B, DeStefano Anita L, Laramie Jason M, Huskey Karen W, Massood Tiffany, Wilk Jemma B, Nagle Michael W, Williamson Sally, Hendricks Audrey E, Saint-Hilaire Marie H, Zini Michela, Pezzoli Gianni, Goldwurm Stefano, Singer Carlos, Shill Holly A, Ahmed Anwar, Perlmutter Joel S, Guttman Mark, Racette Brad A, Watts Ray L, Wooten G Frederick, Growdon John H, Mark Margery H, Golbe Lawrence I, Klein Christine, Suchowersky Oksana, Lew Mark F, Sun Mei, Latourelle Jeanne C, Nance Martha, Drasby Edward, Isaacson Stuart, Burn David J, Chinnery Patrick F, Pramstaller Peter P, Al-hinti Jomana, Moller Anette T, Ostergaard Karen, Sherman Scott J, Roxburgh Richard, Snow Barry, Slevin John T, Cambi Franca, Gusella James F, and Myers Richard H

Subjects
Medicine
Abstract

Abstract Background We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen LRRK2 mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD. Methods A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different LRRK2 mutations. Penetrance was estimated in families of LRRK2 carriers with consideration of the inherent bias towards increased penetrance in a familial sample. Results Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 LRRK2 mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the LRRK2 mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-LRRK2-related PD families. Conclusion Lifetime penetrance of LRRK2 estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained LRRK2 cases, suggesting that inherited susceptibility factors may modify the penetrance of LRRK2 mutations. In addition, the presence of nine PD phenocopies in the LRRK2 families suggests that these susceptibility factors may also increase the risk of non-LRRK2-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for LRRK2 carriers are independent of the factors which increase PD prevalence in men.

Published
2008
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134. A questionnaire-based (UM-PDHQ) study of hallucinations in Parkinson's disease

Author

Nation Daniel, Scanlon Blake K, Singer Carlos, Schrag Anette, Katzen Heather, Papapetropoulos Spiridon, Guevara Alexandra, and Levin Bonnie

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Hallucinations occur in 20–40% of PD patients and have been associated with unfavorable clinical outcomes (i.e., nursing home placement, increased mortality). Hallucinations, like other non-motor features of PD, are not well recognized in routine primary/secondary clinical practice. So far, there has been no instrument for uniform characterization of hallucinations in PD. To this end, we developed the University of Miami Parkinson's disease Hallucinations Questionnaire (UM-PDHQ) that allows comprehensive assessment of hallucinations in clinical or research settings. Methods The UM-PDHQ is composed of 6 quantitative and 14 qualitative items. For our study PD patients of all ages and in all stages of the disease were recruited over an 18-month period. The UPDRS, MMSE, and Beck Depression and Anxiety Inventories were used for comparisons. Results and Discussion Seventy consecutive PD patients were included in the analyses. Thirty-one (44.3%) were classified as hallucinators and 39 as non-hallucinators. No significant group differences were observed in terms of demographics, disease characteristics, stage, education, depressive/anxiety scores or cognitive functioning (MMSE) between hallucinators and non-hallucinators. Single mode hallucinations were reported in 20/31 (visual/14, auditory/4, olfactory/2) whereas multiple modalities were reported in 11/31 patients. The most common hallucinatory experience was a whole person followed by small animals, insects and reptiles. Conclusion Using the UM-PDHQ, we were able to define the key characteristics of hallucinations in PD in our cohort. Future directions include the validation of the quantitative part of the questionnaire than will serve as a rating scale for severity of hallucinations.

Published
2008
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136. Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

Author

Singer Carlos and Papapetropoulos Spiridon

Subjects
Specialties of internal medicine, RC581-951
Abstract

Abstract Background In oromandibular dystonia (OMD) abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL) dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. Methods We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. Results Five out of 32 (15.6%) OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs). Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. Conclusion Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice.

Published
2006
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147. Design of a cluster-randomized minority recruitment trial: RECRUIT

Author

Tilley, Barbara C, primary, Mainous, Arch G, additional, Smith, Daniel W, additional, McKee, M Diane, additional, Amorrortu, Rossybelle P, additional, Alvidrez, Jennifer, additional, Diaz, Vanessa, additional, Ford, Marvella E, additional, Fernandez, Maria E, additional, Hauser, Robert A, additional, Singer, Carlos, additional, Landa, Veronica, additional, Trevino, Aron, additional, DeSantis, Stacia M, additional, Zhang, Yefei, additional, Daniels, Elvan, additional, Tabor, Derrick, additional, and Vernon, Sally W, additional

Published
2017
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148. Differences in MDS-UPDRS Scores Based on Hoehn and Yahr Stage and Disease Duration

Author

Skorvanek, Matej, primary, Martinez-Martin, Pablo, additional, Kovacs, Norbert, additional, Rodriguez-Violante, Mayela, additional, Corvol, Jean-Christophe, additional, Taba, Pille, additional, Seppi, Klaus, additional, Levin, Oleg, additional, Schrag, Anette, additional, Foltynie, Thomas, additional, Alvarez-Sanchez, Mario, additional, Arakaki, Tomoko, additional, Aschermann, Zsuzsanna, additional, Aviles-Olmos, Iciar, additional, Benchetrit, Eve, additional, Benoit, Charline, additional, Bergareche-Yarza, Alberto, additional, Cervantes-Arriaga, Amin, additional, Chade, Anabel, additional, Cormier, Florence, additional, Datieva, Veronika, additional, Gallagher, David A., additional, Garretto, Nelida, additional, Gdovinova, Zuzana, additional, Gershanik, Oscar, additional, Grofik, Milan, additional, Han, Vladimir, additional, Huang, Jing, additional, Kadastik-Eerme, Liis, additional, Kurtis, Monica M., additional, Mangone, Graziella, additional, Martinez-Castrillo, Juan Carlos, additional, Mendoza-Rodriguez, Amelia, additional, Minar, Michal, additional, Moore, Henry P., additional, Muldmaa, Mari, additional, Mueller, Christoph, additional, Pinter, Bernadette, additional, Poewe, Werner, additional, Rallmann, Karin, additional, Reiter, Eva, additional, Rodriguez-Blazquez, Carmen, additional, Singer, Carlos, additional, Tilley, Barbara C., additional, Valkovic, Peter, additional, Goetz, Christopher G., additional, and Stebbins, Glenn T., additional

Published
2017
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149. Caffeine and Progression of Parkinson Disease: A Deleterious Interaction With Creatine

Author

Simon, David K, Wu, Cai, Tilley, Barbara C, Wills, Anne-Marie, Aminoff, Michael J, Bainbridge, Jacquelyn, Hauser, Robert A, Schneider, Jay S, Sharma, Saloni, Singer, Carlos, Tanner, Caroline M, Truong, Daniel, and Wong, Pei Shieen

Subjects
Male, Aging, LS1 [adenosine A2a receptor antagonist], coffee, interaction, supplement, Neurodegenerative, Clinical Research, Caffeine, Humans, 2.1 Biological and endogenous factors, Drug Interactions, Aetiology, Nutrition, Parkinson's Disease, Neurology & Neurosurgery, Neurosciences, association, Parkinson Disease, NET-PD, Pharmacology and Pharmaceutical Sciences, Middle Aged, clinical study, Creatine, Brain Disorders, Neurological, Disease Progression, movement disorders, Central Nervous System Stimulants, Female, neuroprotection, progression
Abstract

ObjectiveIncreased caffeine intake is associated with a lower risk of Parkinson disease (PD) and is neuroprotective in mouse models of PD. However, in a previous study, an exploratory analysis suggested that, in patients taking creatine, caffeine intake was associated with a faster rate of progression. In the current study, we investigated the association of caffeine with the rate of progression of PD and the interaction of this association with creatine intake.MethodsData were analyzed from a large phase 3 placebo-controlled clinical study of creatine as a potentially disease-modifying agent in PD. Subjects were recruited for this study from 45 movement disorders centers across the United States and Canada. A total of 1741 subjects with PD participated in the primary clinical study, and caffeine intake data were available for 1549 of these subjects. The association of caffeine intake with rate of progression of PD as measured by the change in the total Unified Parkinson Disease Rating Scale score and the interaction of this association with creatine intake were assessed.ResultsCaffeine intake was not associated with the rate of progression of PD in the main analysis, but higher caffeine intake was associated with significantly faster progression among subjects taking creatine.ConclusionsThis is the largest and longest study conducted to date that addresses the association of caffeine with the rate of progression of PD. These data indicate a potentially deleterious interaction between caffeine and creatine with respect to the rate of progression of PD.

Published
2015

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