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5 results on '"Maryan DeAngelis"'

1. Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

Author

S. Chouinard, A. Kaczmarek, Susan Mendick, Sharon Evans, P. M. Conneally, Roberta Winnick, Andrew Feigin, L. Elmer, Nathan Pankratz, Barbara Shannon, E. Aiken, T. Ajax, C. Horn, Christine Hunter, J. Mannetter, Margaret F. Turk, Donald S. Higgins, Miodrag Velickovic, C. Dingmann, Maryan DeAngelis, Kapil D. Sethi, M. Marotta-Kollarus, L. Woodward, M. Stacy, Cheyl A. Halter, Karen Williams, Carolyn Peterson, Nestor Galvez-Jimenez, Margaret C. Lannon, C. Schell, Kelvin L. Chou, Tatyana Simuni, H. Poiffaut, Stewart A. Factor, H. Shill, Joseph Jankovic, Michel Panisset, Tatiana Foroud, Juliette Harris, Deborah Judd, A. Podichetty, S. Phipps, Kathy Davis, Joann Belden, V. E. Elsaesser, S. Narayan, J. Fraser, Clifford W. Shults, K. Williamson, Aileen Shinaman, S. Wilson, William C. Nichols, L. Marlor, John M. Bertoni, Joanne Wojcieszek, Cheryl Halter, Kenneth Marek, P. Ryan, Alice Rudolph, Christopher F. O'Brien, Karen Blindauer, Karyn Boyar, Jayaraman Rao, Kelly E. Lyons, Becky Dunlop, C. Costan-Toth, Lauren Seeberger, Ryan J. Uitti, Karen Marder, Stephen G. Reich, David Oakes, Lisa Scollins, Jean Hall, Joanna Hamann, Mandar Jog, Eric Siemers, E. Ohmann, E. Licari, Frederick J. Marshall, Mark Forrest Gordon, Maureen Cook, Peter A. LeWitt, Vincent Calabrese, Jeannine Petit, Diane K. Marek, Rachel Saunders-Pullman, Peggy Roberge, C. Joubert, Hubert H. Fernandez, K. Ligon, J. Carpenter, Lewis Sudarsky, J. Danielson, William C. Koller, David Simon, Michael W. Pauciulo, Danna Jennings, Joseph H. Friedman, and Cliff Shults

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Parkinson's disease, Adolescent, Glycine, Pedigree chart, Disease, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, medicine.disease_cause, Central nervous system disease, Degenerative disease, Serine, medicine, Humans, Genetic Testing, Aged, Aged, 80 and over, Family Health, Genetics, Mutation, business.industry, Parkinson Disease, Middle Aged, medicine.disease, LRRK2, nervous system diseases, Neurology, North America, Cohort, Female, Neurology (clinical), business
Abstract

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G > A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent.

Published
2006

2. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

Author

Francis O. Walker, Juliette Harris, Holly Delgado, David Simon, Paul J. Tuite, Jayaraman Rao, Kelly E. Lyons, Tilak Mendis, Bala V. Manyam, Joanna Hamman, Deborah Fontaine, Terry Reed, William C. Nichols, Sharon Evans, Joanne Wojcieszek, Peggy Gray, Anette Nieves, Carson Reider, P. Michael Conneally, W.R. Wayne Martin, Kathy Davis, Christine Hunter, Daniel D. Truong, John M. Bertoni, Hubert H. Fernandez, Joseph H. Friedman, Nathan Pankratz, Margaret C. Lannon, Kenneth Marek, Maryan DeAngelis, Mark Stacy, Debra Berry, Mariann DiMinno, Robyn Schacherer, Becky Dunlop, Michel Panisset, Carmen Serrano Ramos, Alice Rudolph, Tatiana Foroud, Theresa A. Zesiewicz, David Grimes, An Tran, Joan Werner, Jean Hall, Sandra Roque, Magali Fernandez, Joseph Jankovic, Michael J. Aminoff, Rachel Saunders Pullman, Maureen A. Leehey, Cliff Shults, Deborah Judd, William C. Koller, Mark Forrest Gordon, Cheryl Halter, Ali H. Rajput, Pam Andrews, Stephen G. Reich, Theresa Derian, Alex Rajput, Stephanie Thomas, Galit Kleimer-Fisman, Susan Mendick, Robert A. Hauser, Danna Jennings, Paul Gordon, Stewart A. Factor, Peter A. LeWitt, Un Jung Kang, Karyn Boyar, Ronald F. Pfeiffer, Robert L. Rodnitzky, Jean P. Hubble, Jeannine Petit, Mayank Pathak, Julie H. Carter, Maureen Cook, William J. Weiner, Rajesh Pahwa, Christopher F. O'Brien, Karen Marder, Joan Young, Judith Dobson, Richard Camicioli, Lawrence Elmer, Jo Belden, Julie So, Theresa Shirley, Anthony E. Lang, Roger Kurlan, Kelli Williamson, Brenda Pfeiffer, Victoria Hunt, Sean K. Uniacke, Clifford W. Shults, Karen Blindauer, Lauren Seeberger, Brian Wulbrecht, and Carolyn Peterson

Subjects
Adult, Heterozygote, Parkinson's disease, Adolescent, Locus (genetics), Disease, Biology, Loss of heterozygosity, Central nervous system disease, Exon, Degenerative disease, Nuclear Receptor Subfamily 4, Group A, Member 2, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Aged, Aged, 80 and over, Genetics, Polymorphism, Genetic, Homozygote, Parkinson Disease, Middle Aged, medicine.disease, Introns, DNA-Binding Proteins, Neurology, Immunology, Cohort, DNA Transposable Elements, Neurology (clinical), Transcription Factors
Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a genetic contribution to the disorder. Recently, a polymorphic variant within intron 6 of the Nurr1 gene was reported to be associated with sporadic and familial PD. In an effort to identify susceptibility genes for PD, we have collected 783 PD patients from 372 families and 397 healthy controls from 217 families. PD patients and healthy controls were genotyped for the intron 6 insertion polymorphism by BseRI restriction endonuclease digestion. No significant difference in either homozygosity or heterozygosity for the 7048G7049 (IVS6 1361 +16insG) polymorphism was detected in the PD patient cohort as compared with the panel of healthy controls. Moreover, direct sequencing of exon 1 of the Nurr1 gene in PD patients failed to detect either of the two recently reported Nurr1 mutations identified in a small subset of a PD patient cohort. Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients.

Published
2004

3. R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

Author

Karen Williams, Carolyn Peterson, S. Narayan, Margaret F. Turk, Julie H. Carter, C. Schell, Carlos Singer, Chad W. Christine, Paul J. Tuite, Robyn Schacherer, J. Whetteckey, S. Phipps, Diane K. Marek, William C. Nichols, John M. Bertoni, A. H. Rajput, Kenneth Marek, An Tran, P. Ryan, J. Hevezi, Joan Werner, Kelvin L. Chou, S. Chouinard, James Sutton, Margaret C. Lannon, T. Ajax, Joan Young, Deborah Judd, L. Zelaya, David Grimes, Magali Fernandez, Theresa A. Zesiewicz, Mark Stacy, Peggy Gray, Debra Berry, Michael J. Aminoff, C. Horn, C. Costan-Toth, J. Mannetter, Patricia Simpson, Susan Rolandelli, Tatiana Foroud, T. Tra, S. Wilson, Judith Dobson, Nestor Galvez-Jimenez, Donna Schwieterman, Shirley Uy, K. Price, J. Wojcieszek, Anette Nieves, Paul Atchison, Susan Bennett, L. Klassen, A. Podichetty, Vincent Calabrese, Becky Dunlop, D. Kamp, Holly Delgado, Sandra Roque, Maureen A. Leehey, Richard Camicioli, Julie So, Jayaraman Rao, Kelly E. Lyons, Kapil D. Sethi, A. Wang, Lynn Marlor, David Oakes, S. Culver, Juan Sanchez-Ramos, L. Woodward, J. Danielson, Jeannine Petit, Joann Belden, E. Licari, M. Meacham, Deborah Fontaine, Sharon Evans, C. Stone, S. Morehouse, Christopher F. O'Brien, G. Podskalny, J. Fraser, Anthony E. Lang, W.R. Wayne Martin, Carmen Serrano, H. Poiffaut, Stewart A. Factor, Joanne Wojcieszek, S. Belber, L. Davis, C. Allen, J. Hall, Judy Richman, Joseph Jankovic, Carson Reider, Stephen G. Reich, Stephanie Thomas, Kathy Davis, Richard B. Dewey, Karen Marder, T. Demarcaida, A. Kaczmarek, Lauren Seeberger, C. Halter, Mary Lou Klimek, Donald S. Higgins, Miodrag Velickovic, Joanna Hamann, Eric Siemers, E. Ohmann, C. Dingmann, Galit Kleiner-Fisman, Shari Niswonger, Theresa Derian, Maryan DeAngelis, Aileen Shinaman, Tilak Mendis, M. Rundle, Susan Mendick, L. Giffin, Karen Blindauer, Paul Gordon, Andrew Feigin, L. Shulman, Maureen Cook, Brian Wulbrecht, Rajesh Pahwa, T. Foroud, Un Jung Kang, Arthur Watts, Oksana Suchowersky, C. Joubert, J. Vo, Mandar Jog, M. Panisset, Roberta Winnick, Ronald F. Pfeiffer, Barbara Shannon, Jean P. Hubble, Clifford W. Shults, T. Gales, Tanya Simuni, M. Wolff, Hubert H. Fernandez, Pam Andrews, Karyn Boyar, Brad A. Racette, Vicki Hunt, Christine Hunter, Daniel D. Truong, L. Good, Robert L. Rodnitzky, P. Rodriguez, Sandra K. Kostyk, T. Shirley, Cheryl Halter, Peter A LeWitt, W. Weiner, Ryan J. Uitti, Lisa Scollins, Marc L. Gordon, J. Carpenter, Alice Rudolph, Lewis Sudarsky, Robert A. Hauser, Cliff Shults, Bala V. Manyam, Francis O. Walker, Juliette Harris, Marguerite Wieler, K. Dustin, Kelli Williamson, Brenda Pfeiffer, William C. Koller, Frederick J. Marshall, V. Hagen, A. Campbell, B. Hutchinson, L. Elmer, Anja Rudolph, K. Haas, Tori Ross, Rachel Saunders-Pullman, Nathan Pankratz, E. Aiken, Mariann DiMinno, Peggy Roberge, Arif Dalvi, B. Hayward, Mayank Pathak, David Simon, Michael W. Pauciulo, Holly A. Shill, M. Marotta-Kollarus, K. Ligon, Alok Sahay, Joseph H. Friedman, Neal Hermanowicz, E. Julian-Baros, Irenita Gardiner, N. Luong, Danna Jennings, R. Kurlan, and P. M. Conneally

Subjects
Adult, Male, Parkinson's disease, Adolescent, Genotype, Arginine, Guanine, Protein Serine-Threonine Kinases, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, medicine.disease_cause, Diagnosis, Differential, chemistry.chemical_compound, Degenerative disease, medicine, Humans, Point Mutation, Aged, Aged, 80 and over, Genetics, Mutation, Substitution (logic), Adenine Nucleotide Translocator 1, Genetic Variation, Parkinson Disease, Middle Aged, medicine.disease, LRRK2, nervous system diseases, Amino Acid Substitution, Neurology, chemistry, Female, Neurology (clinical), Carrier Proteins
Abstract

Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q). Although this substitution was not found in a large cohort of controls, its pathogenicity could not be verified. We have now genotyped the R1514Q substitution in a sample of 954 PD patients from 429 multiplex PD families. This substitution was identified in 1.8% of the PD patients; however, the majority of the PD sibships segregating this substitution were discordant for this putative mutation. In addition, the R1514Q substitution was detected in 1.4% of neurologically evaluated, control individuals. These data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation. We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing.

Published
2007

4. Long-term outcome of early versus delayed rasagiline treatment in early Parkinson's disease

Author

Micki McCollister, Julie Hevezi, Naomi Santoni, Tracey Tam, Rajesh Pahwa, Cynthia Alcorn-Costa, Barbara Fussell, Xiaoming Lu, Cheryl Armstrong, Peggy Gray, Patricia Dyches, Jovianna N. Wellinghoff, Shaunna Caouette, James B. Osborne, William C. Koller, Tilak Mendis, Shantelle Coe, Jacqueline Nash, Shirley Uy, Howard I. Hurtig, Susan Rolli, Tracy Stewart, Judy Richman, Susan Rolandelli, William G. Ondo, Cathi A. Thomas, Melodie Moterson, Maryan DeAngelis, Sheila Everett, Mary Mathews, Linda L. Mann, Eric Molho, Lorette J. Jenkins, Jessie Roth, Sandra K. Kostyk, Deborah L. Caputo, Ali H. Rajput, Jean Ayan, Un Jung Kang, Paul Atchison, Jo Belden, Julie So, Andew Feigin, Lisa Johnston, Lawrence I. Golb, Howard H. Hurtig, Larisa I. Skrypnik, Michael J. Aminoff, J. Carpenter, Patricia Seuffert, Carlos Singer, Amy Parsons, Kapil D. Sethi, Mark Forrest Gordon, Pam King, Mary Lloyd, Katherine B. Hawthorne, Linda Klassen, Shoba Narayan, Cathy R. Anderson, Patricia Kaminski, Karen Caplan, Robert A. Hauser, Dinorah Bateman, Erica Barnabei, Cheryl Fitzer-Attas, Kellie Gelles, Tamara Gales, Joanne Wojcieszek, Robert Hauser, Teri Radam, Karen Stavris, Carolyn C. Weeks, Marlene Gerow, Connie Kawai, Tracey Borst, Caroline M. Tanner, Charles H. Adler, Mickie Welsh, Nancy Pearson, Anita Lopez, Georgia Germain, Cathy W. Allen, Marianne Ewasnishin, Lisa Tagg, Brenda Ebbitt, Myrna Schear, Jean A. Jaglin, Roberta Winnick, Dawn Miller, Nancy Saton, Suzanne W. Schuman, Davoud Mohtat, Barbara Shannon, Vincent Calabrese, Mark F. Lew, Janis M. Miyasaki, William J. Weiner, Jody Lowery, Christine Hunter, Diane Brown, Keely Haas, Paul J. Tuite, Peter A. LeWitt, Mirann DiMinno, Cheryl Cooper, Peter Novak, Robert G. Feldman, Joanne Hamann, Sharon Evans, W.R. Wayne Martin, Mark Stacy, Debra Berry, Sharon Wortzel, John M. Bertoni, Kenneth Marek, Kelli Williamson, Lisa Gauger, Cheryl Newcomb, Carolyn Peterson, K. Ligon, Stephanie Newman, Vanessa Patterson, Peggy Roberge, Arif Dalvi, Laura Sutherland, Frederick J. Marshall, Scott Cradr, Karen Betcher, Carolyn Deloa, Jean P. Hubble, Kathleen M. Shannon, Sharyn Parness, Neila Mendis, Germanine McInnes, Adrienne Baranauskas, and Irenita Gardiner

Subjects
Adult, Male, medicine.medical_specialty, Parkinson's disease, Monoamine Oxidase Inhibitors, Time Factors, Placebo, Severity of Illness Index, Drug Administration Schedule, law.invention, Central nervous system disease, Antiparkinson Agents, Levodopa, chemistry.chemical_compound, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Severity of illness, medicine, Humans, Longitudinal Studies, Aged, Retrospective Studies, Rasagiline, Dose-Response Relationship, Drug, Reproducibility of Results, Retrospective cohort study, Parkinson Disease, Middle Aged, medicine.disease, Surgery, Clinical trial, Treatment Outcome, Neurology, chemistry, Indans, Quality of Life, Female, Neurology (clinical), Psychology
Abstract

The purpose of this study to compare the long-term clinical outcome of early versus delayed rasagiline treatment in early Parkinson's disease (PD). Subjects (N = 404) were randomly assigned to initial treatment with rasagiline (early-start group) or placebo for 6 months followed by rasagiline (delayed-start group) in the TEMPO study. Subjects who chose to participate in an open-label extension (N = 306) continued to receive rasagiline as well as other PD medications as needed. Average (+/-SD) duration in the study was 3.6 +/- 2.1 years; 177 subjects received rasagiline for > or =5.0 years. Over the entire 6.5-year follow-up period, the adjusted mean difference in change from baseline in total UPDRS scores was 2.5 units (SE 1.1; P = 0.021) or 16% (SE 5.7; P = 0.006) in favor of the early-start versus delayed-start rasagiline group. Although the interaction between treatment and time was significant, values for the early-start group were better than the delayed-start group across all time points. Significantly less worsening (percent change) in total UPDRS scores was observed in the early-start group at the time points 0.5, 1.5, 2.0, 3.0, 4.5, 5.0, and 5.5 years (P < 0.05). Compared to delayed start, early initiation of rasagiline provided long-term clinical benefit, even in the face of treatment with other dopaminergic agents. This might reflect enduring benefits due to neuroprotection or effects on compensatory mechanisms in early PD.

Published
2008

5. Significant Linkage of Parkinson Disease to Chromosome 2q36-37

Author

Juan Sanchez-Ramos, Paul J. Tuite, Stewart A. Factor, Mark Forrest Gordon, Sharon Evans, W.R. Wayne Martin, Michel Panisset, Patricia Simpson, Joann Belden, Deborah Fontaine, Joanne Wojcieszek, William C. Nichols, P. Michael Conneally, Margaret C. Lannon, Rachel Saunders Pullman, Anhoa Tran, Mark Stacy, Debra Berry, Un Jung Kang, Hubert H. Fernandez, Peggy Gray, Anette Nieves, Joanna Hamann, Ali H. Rajput, Tatiana Foroud, Shirley Uy, Ronald F. Pfeiffer, Jean P. Hubble, Maryan DeAngelis, Mayank Pathak, Sandra Roque, David Simon, Danna Jennings, William J. Weiner, Karyn Boyar, Holly Delgado, Lawrence I. Golbe, Alice Rudolph, Kelly E. Lyons, Tilak Mendis, Joseph H. Friedman, Joseph Jankovic, Carmen Serrano Ramos, Robert L. Rodnitzky, Rajesh Pahwa, Aileen Shinaman, Susan Mendick, Jean Hall, Paul Gordon, Judith Dobson, Nathan Pankratz, Becky Dunlop, Mariann DiMinno, Cliff Shults, Pamela Andrews, Robert A. Hauser, Peter A. LeWitt, Julie So, David Oakes, Theresa Shirley, Carson Reider, Bala V. Manyam, Kathy Davis, Francis O. Walker, Jeannine Petit, Marguerite Wieler, Juliette Harris, Stephen G. Reich, Stephanie Thomas, Christine Hunter, Daniel D. Truong, Eric Siemers, William C. Koller, Julie H. Carter, Theresa A. Zesiewicz, Michael J. Aminoff, David Grimes, Magali Fernandez, Richard Camicioli, Robyn Schacherer, Joan Werner, Christopher F. O'Brien, Karen Marder, Lawrence Elmer, Victoria Hunt, Sean K. Uniacke, Cheryl Halter, Roger Kurlan, Kelli Williamson, Alex Rajput, Brenda Pfeiffer, Lisa Scollins, John M. Bertoni, Kenneth Marek, Karen Blindauer, Lauren Seeberger, Carolyn Peterson, Frederick J. Marshall, and Deborah Judd

Subjects
Genetic Markers, Male, Ubiquitin-Protein Ligases, Pedigree chart, Biology, Genetic determinism, Ligases, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Report, medicine, Genetics, Humans, Family, Genetics(clinical), Family history, Genetics (clinical), 030304 developmental biology, Linkage (software), 0303 health sciences, Chromosome, Chromosome Mapping, Parkinson Disease, medicine.disease, Genetic marker, Chromosomes, Human, Pair 2, Female, Alzheimer's disease, Lod Score, 030217 neurology & neurosurgery
Abstract

Parkinson disease (PD) is the second most common neurodegenerative disorder, surpassed in frequency only by Alzheimer disease. Elsewhere we have reported linkage to chromosome 2q in a sample of sibling pairs with PD. We have now expanded our sample to include 150 families meeting our strictest diagnostic definition of verified PD. To further delineate the chromosome 2q linkage, we have performed analyses using only those pedigrees with the strongest family history of PD. Linkage analyses in this subset of 65 pedigrees generated a LOD score of 5.1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggests that variation in a gene on chromosome 2q36-37 contributes to PD susceptibility.

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