Search

Your search keyword '"Laurie Ozelius"' showing total 15 results
Start Over Author "Laurie Ozelius"
15 results on '"Laurie Ozelius"'

1. Isolated Cervical Dystonia: Management and Barriers to Care

Author

Melanie Leigh Supnet, Patrick Acuna, Samuel J. Carr, Jan Kristoper de Guzman, Xena Al Qahtani, Trisha Multhaupt-Buell, Taylor Francoeur, Gabrielle E. Aldykiewicz, Priyanka R. Alluri, Lindsey Campion, Lisa Paul, Laurie Ozelius, Ellen B. Penney, Christopher D. Stephen, Marisela Dy-Hollins, and Nutan Sharma

Subjects
cervical dystonia, movement disorders, treatment, barriers to care, clinical features, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical dystonia. In our cohort, we have identified an earlier age of onset in men, despite an overall preponderance of affected women.Objective: We aim to identify the prevalence, age of onset, spread, and treatment modalities of CD in the population. We also highlight the barriers which patients encounter related to diagnosis, follow-up, and treatment.Methods: We reviewed 149 CD patients who attended specialized Dystonia Clinics over a 14-year period. Dystonia severity was rated using the Burke-Fahn-Marsden (BFM), Tsui, and Toronto Western Spasmodic Torticollis Rating Scales (TWSTRS). Mood and quality of life were assessed using Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and 36-Item Short Form Health Survey (SF-36).Results: CD patients were majority White (91.3%) and more commonly female (75.8%). Men had an earlier median age of onset, 40.5 years (p = 0.044). BAI revealed a mean score of 7.2 (±6.4, n = 50) indicating minimal anxiety while BDI revealed a mean score of 7.30 (±7.6, n = 50) indicating minimal depression. The only SF-36 subscales associated with CD severity were physical functioning (p = 0.040) pain (p = 0.008) and general health (p = 0.014).Conclusion: There appear to be gender differences in both the prevalence and age of onset of the disease. There was a 3-fold higher incidence in women than in men. CD patients of both sexes experience barriers to care, which can be reflected in their quality of life and time-to-diagnosis. In addition, males were less likely to experience an objective benefit with botulinum toxin treatment and more likely to discontinue care. Greater awareness of CD by health care providers is important to reduce the time-to-diagnosis.

Published
2020
Full Text
View/download PDF

2. Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling

Author

Ikuo Masuho, Sreenivas Chavali, Brian S. Muntean, Nickolas K. Skamangas, Kristina Simonyan, Dipak N. Patil, Grant M. Kramer, Laurie Ozelius, M. Madan Babu, and Kirill A. Martemyanov

Subjects
Biology (General), QH301-705.5
Abstract

Summary: Despite the wealth of genetic information available, mechanisms underlying pathological effects of disease-associated mutations in components of G protein-coupled receptor (GPCR) signaling cascades remain elusive. In this study, we developed a scalable approach for the functional analysis of clinical variants in GPCR pathways along with a complete analytical framework. We applied the strategy to evaluate an extensive set of dystonia-causing mutations in G protein Gαolf. Our quantitative analysis revealed diverse mechanisms by which pathogenic variants disrupt GPCR signaling, leading to a mechanism-based classification of dystonia. In light of significant clinical heterogeneity, the mechanistic analysis of individual disease-associated variants permits tailoring personalized intervention strategies, which makes it superior to the current phenotype-based approach. We propose that the platform developed in this study can be universally applied to evaluate disease mechanisms for conditions associated with genetic variation in all components of GPCR signaling. : Masuho et al. report development of a scalable platform for functional analysis of variants in GPCR pathway components. They apply the method to interrogate molecular mechanisms of dystonia by surveying an exhaustive set of clinical variants in Gαolf revealing diversity of mechanisms underlying signaling disruptions and offering mechanism-based disease classification.

Published
2018
Full Text
View/download PDF

3. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.

Author

Eimear E Kenny, Itsik Pe'er, Amir Karban, Laurie Ozelius, Adele A Mitchell, Sok Meng Ng, Monica Erazo, Harry Ostrer, Clara Abraham, Maria T Abreu, Gil Atzmon, Nir Barzilai, Steven R Brant, Susan Bressman, Edward R Burns, Yehuda Chowers, Lorraine N Clark, Ariel Darvasi, Dana Doheny, Richard H Duerr, Rami Eliakim, Nir Giladi, Peter K Gregersen, Hakon Hakonarson, Michelle R Jones, Karen Marder, Dermot P B McGovern, Jennifer Mulle, Avi Orr-Urtreger, Deborah D Proctor, Ann Pulver, Jerome I Rotter, Mark S Silverberg, Thomas Ullman, Stephen T Warren, Matti Waterman, Wei Zhang, Aviv Bergman, Lloyd Mayer, Seymour Katz, Robert J Desnick, Judy H Cho, and Inga Peter

Subjects
Genetics, QH426-470
Abstract

Crohn's disease (CD) is a complex disorder resulting from the interaction of intestinal microbiota with the host immune system in genetically susceptible individuals. The largest meta-analysis of genome-wide association to date identified 71 CD-susceptibility loci in individuals of European ancestry. An important epidemiological feature of CD is that it is 2-4 times more prevalent among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Europeans (NJ). To explore genetic variation associated with CD in AJs, we conducted a genome-wide association study (GWAS) by combining raw genotype data across 10 AJ cohorts consisting of 907 cases and 2,345 controls in the discovery stage, followed up by a replication study in 971 cases and 2,124 controls. We confirmed genome-wide significant associations of 9 known CD loci in AJs and replicated 3 additional loci with strong signal (p

Published
2012
Full Text
View/download PDF

4. Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy

Author

Yasuo Nakahara, Jun Mitsui, Hidetoshi Date, Kristine Joyce Porto, Yasuhiro Hayashi, Atsushi Yamashita, Yoshio Kusakabe, Takashi Matsukawa, Hiroyuki Ishiura, Tsutomu Yasuda, Atsushi Iwata, Jun Goto, Yaeko Ichikawa, Yoshio Momose, Yuji Takahashi, Tatsushi Toda, Rikifumi Ohta, Jun Yoshimura, Shinichi Morishita, Emil K Gustavsson, Darren Christy, Melissa Maczis, Matthew J. Farrer, Han-Joon Kim, Sung-Sup Park, Beomseok Jeon, Jin Zhang, Weihong Gu, Sonja W. Scholz, Andrew B. Singleton, Henry Houlden, Ichiro Yabe, Hidenao Sasaki, Masaaki Matsushima, Hiroshi Takashima, Akio Kikuchi, Masashi Aoki, Kenju Hara, Akiyoshi Kakita, Mitsunori Yamada, Hitoshi Takahashi, Osamu Onodera, Masatoyo Nishizawa, Hirohisa Watanabe, Mizuki Ito, Gen Sobue, Kinya Ishikawa, Hidehiro Mizusawa, Kazuaki Kanai, Satoshi Kuwabara, Kimihito Arai, Shigeru Koyano, Yoshiyuki Kuroiwa, Kazuko Hasegawa, Tatsuhiko Yuasa, Kenichi Yasui, Kenji Nakashima, Hijiri Ito, Yuishin Izumi, Ryuji Kaji, Takeo Kato, Susumu Kusunoki, Yasushi Osaki, Masahiro Horiuchi, Ken Yamamoto, Mihoko Shimada, Taku Miyagawa, Yosuke Kawai, Nao Nishida, Katsushi Tokunaga, Alexandra Dürr, Alexis Brice, Alessandro Filla, Thomas Klockgether, Ullrich Wüllner, Caroline M. Tanner, Walter A. Kukull, Virginia M.-Y. Lee, Eliezer Masliah, Phillip A. Low, Paola Sandroni, Laurie Ozelius, Tatiana Foroud, and Shoji Tsuji

Abstract

To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted a genome-wide association study (GWAS) in a Japanese MSA case/control series followed by replication studies in Japanese, Korean, Chinese, European and North American samples. In the GWAS stage rs2303744 on chromosome 19 showed a suggestive association (P= 6.5 × 10−7) that was replicated in additional Japanese samples (P= 2.9 × 10−6. OR = 1.58; 95% confidence interval, 1.30 to 1.91), and then confirmed as highly significant in a meta-analysis of East Asian population data (P= 5.0 × 10-15. Odds ratio= 1.49; 95% CI 1.35 to 1.72). The association of rs2303744 with MSA remained significant in combined European/North American samples (P=0.023. Odds ratio=1.14; 95% CI 1.02 to 1.28) despite allele frequencies being quite different between these populations. rs2303744 leads to an amino acid substitution inPLA2G4Cthat encodes the cPLA2γ lysophospholipase/transacylase. The cPLA2γ-Ile143 isoform encoded by the MSA risk allele has significantly decreased transacylase activity compared with the alternate cPLA2γ-Val143 isoform that may perturb membrane phospholipids and α-synuclein biology.

Published
2023
Full Text
View/download PDF

6. Contributors

Author

Samira Abdulai-Saiku, Stanley H. Appel, Arthur P. Arnold, Lisa M. Arnold, Robert M. Arnold, Alexa Bacha, Miroslav 'Misha' Backonja, Zinzi D. Bailey, Lucinda Bateman, David R. Beers, Anna Berti, Mamta Bhatnagar, Devin K. Binder, Marina Boido, Maura Boldrini, David Borsook, Xandra O. Breakefield, Robert H. Brown, Rami Burstein, Eduardo R. Butelman, Louis R. Caplan, S. Chen, Marie-Françoise Chesselet, Stefan Clemens, Paula R. Clemens, Joseph T. Coyle, John C. DeWitt, Dena B. Dubal, Veljko Dubljević, Eva L. Feldman, Beth A. Fischer, M.C. Flux, J.S. Fortin, Angelisa Frasca, Francesca Garbarini, Thomas Gasser, Charles F. Gillespie, Michael S. Gold, Stefan M. Gold, Randi Hagerman, Regan Hamel, Craig Haney, James C. Harris, Sara Hassani, Norman J. Haughey, Vibol Heng, J. Horn, Rosana-Bristena Ionescu, Raffaele Iorio, David J. Irwin, Henry J. Kaminski, Dalia Khammash, Vikram Khurana, Charlotte Kilstrup-Nielsen, Bhumsoo Kim, Boram Kim, Marieke Klein, Nastassja Koen, Glenn T. Konopaske, Joanna A. Korecka, Birgitte Rahbek Kornum, Mary Jeanne Kreek, Krister Kristensson, Grzegorz Krzak, Linda L. Kusner, Nicoletta Landsberger, Edward B. Lee, Tong Li, Paweł P. Liberski, Christine Lochner, Christopher A. Lowry, J. John Mann, Clara Marincowitz, E.A. Mayer, E.D. Mayer, Iris Coates McCall, Louise D. McCullough, Michael J. Meaney, Claudio Melo de Gusmao, Abhishek L. Menesgere, Emmanuel Mignot, William C. Mobley, Mayra Montalvo, Alisha R. Moreland-Capuia, Marco Neppi-Modona, Alexandra M. Nicaise, Rae Nishi, Orna O'Toole, Cassia Overk, Laurie Ozelius, Matthew P. Parsons, H.B. Penticoff, Luca Peruzzotti-Jametti, Owen M. Peters, Allison Peterson, Jessica M. Phan, Sean J. Pittock, Stefano Pluchino, Thad A. Polk, Araya Puwanant, Shreya K. Rajagopal, Vijayalakshmi Ravindranath, Lynn A. Raymond, Brian Reed, Kerry J. Ressler, Diane L. Ritchie, Leah H. Rubin, Stacey A. Sakowski, Mario A. Saporta, Alena V. Savonenko, Helen E. Scharfman, Bruce K. Shapiro, Nutan Sharma, Cayce K. Shaw, Michael E. Shy, Beata Sikorska, Ethan J. Silverman, Roger P. Simon, Kristina Simonyan, Catrina Sims-Robinson, Richard Jay Smeyne, Clay Smith, Colin Smith, Sharan R. Srinivasan, Dan J. Stein, Christopher D. Stephen, Indu Subramanian, Edina Szabo, Alissa A. Thomas, Luis B. Tovar-y-Romo, Arshya Vahabzadeh, Alessandro Vercelli, Ashley Viera-Ortiz, Mitchell T. Wallin, Donna M. Werling, Thomas Wichmann, Clayton A. Wiley, David R. Williams, Cory Willis, Philip C. Wong, Vadim Yuferov, Weihua Zhao, Michael J. Zigmond, and Saša A. Živković

Published
2023
Full Text
View/download PDF

7. Dystonia

Author

Christopher D. Stephen, Kristina Simonyan, Laurie Ozelius, Xandra O. Breakefield, and Nutan Sharma

Published
2023
Full Text
View/download PDF

8. Establishing a natural history of X-linked dystonia parkinsonism

Author

Patrick Acuna, Melanie Leigh Supnet-Wells, Neil A Spencer, Jan Kristoper de Guzman, Massimiliano Russo, Ann Hunt, Christopher Stephen, Criscely Go, Samuel Carr, Niecy Grace Ganza, John Benedict Lagarde, Shin Begalan, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Lisa Paul, Laurie Ozelius, D Cristopher Bragg, Bridget Perry, Jordan R Green, Jeffrey W Miller, and Nutan Sharma

Subjects
Cellular and Molecular Neuroscience, Psychiatry and Mental health, Neurology, Biological Psychiatry
Abstract

X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates for X-linked dystonia parkinsonism, we focused on the identification of quantitative phenotypic measures that are most strongly associated with disease progression. Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease progression in persons with X-linked dystonia parkinsonism. These measures will set the stage for future treatment trials. We enrolled patients with X-linked dystonia parkinsonism and performed a comprehensive oromotor, speech and neurological assessment. Measurements included patient-reported questionnaires regarding daily living activities and both neurologist-rated movement scales and objective quantitative measures of bulbar function and nutritional status. Patients were followed for 18 months from the date of enrollment and evaluated every 6 months during that period. We analysed a total of 87 men: 29 were gene-positive and had symptoms at enrollment, seven were gene-positive and had no symptoms at enrollment and 51 were gene-negative. We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study. These measures included patient-reported, clinician-rated and objective quantitative outcomes that may serve as endpoints in future clinical trials.

Published
2023
Full Text
View/download PDF

9. Functional variants in the

Author

Ken Y, Hui, Heriberto, Fernandez-Hernandez, Jianzhong, Hu, Adam, Schaffner, Nathan, Pankratz, Nai-Yun, Hsu, Ling-Shiang, Chuang, Shai, Carmi, Nicole, Villaverde, Xianting, Li, Manual, Rivas, Adam P, Levine, Xiuliang, Bao, Philippe R, Labrias, Talin, Haritunians, Darren, Ruane, Kyle, Gettler, Ernie, Chen, Dalin, Li, Elena R, Schiff, Nikolas, Pontikos, Nir, Barzilai, Steven R, Brant, Susan, Bressman, Adam S, Cheifetz, Lorraine N, Clark, Mark J, Daly, Robert J, Desnick, Richard H, Duerr, Seymour, Katz, Todd, Lencz, Richard H, Myers, Harry, Ostrer, Laurie, Ozelius, Haydeh, Payami, Yakov, Peter, John D, Rioux, Anthony W, Segal, William K, Scott, Mark S, Silverberg, Jeffery M, Vance, Iban, Ubarretxena-Belandia, Tatiana, Foroud, Gil, Atzmon, Itsik, Pe'er, Yiannis, Ioannou, Dermot P B, McGovern, Zhenyu, Yue, Eric E, Schadt, Judy H, Cho, and Inga, Peter

Subjects
Genome, Human, Macrophages, Genetic Variation, Reproducibility of Results, Parkinson Disease, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Open Reading Frames, Phenotype, Crohn Disease, Gene Frequency, Genetic Loci, Risk Factors, Exome Sequencing, Autophagy, Odds Ratio, Humans, Exome, Gene Regulatory Networks, Genetic Predisposition to Disease, Alleles, Cytoskeleton
Abstract

Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the

Published
2016

10. REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers

Author

Rachel, Saunders-Pullman, Roy N, Alcalay, Anat, Mirelman, Cuiling, Wang, Marta San, Luciano, Roberto A, Ortega, Amanda, Glickman, Deborah, Raymond, Helen, Mejia-Santana, Nancy, Doan, Brooke, Johannes, Kira, Yasinovsky, Laurie, Ozelius, Lorraine, Clark, Avi, Orr-Utreger, Karen, Marder, Nir, Giladi, Susan B, Bressman, and Ora, Assais

Subjects
Adult, Male, Glutamine, Judaism, Parkinson Disease, Middle Aged, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Article, Surveys and Questionnaires, Mutation, Serine, Humans, Sleep Deprivation, Female, Aged
Abstract

Rapid eye movement sleep behavior disorder occurs with idiopathic Parkinson's disease (PD) and often precedes PD. Its frequency in LRRK2-PD and utility as a preclinical marker has not been established.One hundred forty-four idiopathic PD, 142 LRRK2 G2019S mutation PD, 117 non-manifesting carriers, 93 related noncarriers, and 40 healthy controls completed the Rapid eye movement sleep Behavior Disorder Screening Questionnaire.Cut scores were met by 30.6% idiopathic PD, 19.7% LRRK2-PD, 6% nonmanifesting carriers, 20.4% related noncarriers, and 15% controls. The likelihood of abnormal scores was decreased in LRRK2-PD versus idiopathic PD (odds ratio = 0.55, P = 0.03), nonmanifesting carriers versus related noncarriers (OR = 0.25, P0.01), and PD of less than 3 years' duration, 1 of 19 LRRK2-PD versus 14 of 41 idiopathic PD (P0.05).A lower frequency of abnormal questionnaire scores is seen in LRRK2-PD, especially in early LRRK2-PD, and in nonmanifesting carriers. Therefore, the Rapid eye movement sleep Behavior Disorder Questionnaire is unlikely to serve as a preclinical marker for phenoconversion to PD.

Published
2015

11. Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

Author

Roy N, Alcalay, Anat, Mirelman, Rachel, Saunders-Pullman, Ming-X, Tang, Helen, Mejia Santana, Deborah, Raymond, Ernest, Roos, Martha, Orbe-Reilly, Tanya, Gurevich, Anat, Bar Shira, Mali, Gana Weisz, Kira, Yasinovsky, Maayan, Zalis, Avner, Thaler, Andres, Deik, Matthew James, Barrett, Jose, Cabassa, Mark, Groves, Ann L, Hunt, Naomi, Lubarr, Marta, San Luciano, Joan, Miravite, Christina, Palmese, Rivka, Sachdev, Harini, Sarva, Lawrence, Severt, Vicki, Shanker, Matthew Carrington, Swan, Jeannie, Soto-Valencia, Brooke, Johannes, Robert, Ortega, Stanley, Fahn, Lucien, Cote, Cheryl, Waters, Pietro, Mazzoni, Blair, Ford, Elan, Louis, Oren, Levy, Llency, Rosado, Diana, Ruiz, Tsvyatko, Dorovski, Michael, Pauciulo, William, Nichols, Avi, Orr-Urtreger, Laurie, Ozelius, Lorraine, Clark, Nir, Giladi, Susan, Bressman, and Karen S, Marder

Subjects
Male, Genotype, Glycine, Parkinson Disease, Middle Aged, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Severity of Illness Index, Phenotype, Jews, Surveys and Questionnaires, Mutation, Serine, Humans, Regression Analysis, Female, Aged
Abstract

The phenotype of Parkinson's disease (PD) in patients with and without leucine-rich repeat kinase 2 (LRRK2) G2019S mutations reportedly is similar; however, large, uniformly evaluated series are lacking. The objective of this study was to characterize the clinical phenotype of Ashkenazi Jewish (AJ) PD carriers of the LRRK2 G2019S mutation. We studied 553 AJ PD patients, including 65 patients who were previously reported, from three sites (two in New York and one in Tel-Aviv). Glucocerebrosidase (GBA) mutation carriers were excluded. Evaluations included the Montreal Cognitive Assessment (MoCA), the Unified Parkinson's Disease Rating Scale (UPDRS), the Geriatric Depression Scale (GDS) and the Non-Motor Symptoms (NMS) questionnaire. Regression models were constructed to test the association between clinical and demographic features and LRRK2 status (outcome) in 488 newly recruited participants. LRRK2 G2019S carriers (n = 97) and non-carriers (n = 391) were similar in age and age at onset of PD. Carriers had longer disease duration (8.6 years vs. 6.1 years; P 0.001), were more likely to be women (51.5% vs. 37.9%; P = 0.015), and more often reported first symptoms in the lower extremities (40.0% vs. 19.2%; P 0.001). In logistic models that were adjusted for age, disease duration, sex, education, and site, carriers were more likely to have lower extremity onset (P 0.001), postural instability and gait difficulty (PIGD) (P = 0.043), and a persistent levodopa response for5 years (P = 0.042). Performance on the UPDRS, MoCA, GDS, and NMS did not differ by mutation status. PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more frequent lower extremity involvement at onset and PIGD without the associated cognitive impairment.

Published
2013

12. A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome

Author

Sibel Özekmekçi, Laurie Ozelius, Hulya Apaydin, and Gulcin Benbir

Subjects
Dystonia, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Locus (genetics), Biology, medicine.disease, Molecular biology, Exon, Transmembrane domain, SGCE, medicine, medicine.symptom, Gene, Myoclonus, Loss function
Abstract

Myoclonus-dystonia syndrome (MDS) is a rare hereditary movement disorder characterized by the early onset of myoclonus in the first or second decade of life. The first locus for MDS was mapped to chromosome 7q21 and identified as the epsilon-sarcoglycan (SGCE) gene, and numerous mutations were subsequently identified. We here present the first reported Turkish MDS patient identified with a novel mutation in exon 6 of the SGCE gene, which resulted in truncation of the protein before the transmembrane domain, presumably causing the loss of function either by mislocalization of the protein away from the plasma membrane or through nonsense-mediated decay.

Published
2012
Full Text
View/download PDF

13. Responsiveness to levodopa in epsilon-sarcoglycan deletions

Author

Marta San, Luciano, Laurie, Ozelius, Katherine, Sims, Deborah, Raymond, Liu, Liu, and Rachel, Saunders-Pullman

Subjects
Antiparkinson Agents, Levodopa, Male, Myoclonus, Dystonia, Adolescent, Sarcoglycans, Humans, Female, Child, Gene Deletion
Abstract

Myoclonus-dystonia (M-D) is characterized by early-onset myoclonus and dystonia, and is often due to mutations in the epsilon-sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M-D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M-D due to SCGE deletions who displayed a robust and sustained response to levodopa (L-dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L-dopa may be considered in patients with myoclonus-dystonia.

Published
2009

14. Contributor's List

Author

Samuel F. Berkovic, Kaya Bilguvar, Craig Blackstone, Michael H. Bloch, Hal Blumenfeld, D.E. Bredesen, Susan B. Bressman, Michelle Brucal, Edward A. Burton, Josep Dalmau, Ted M. Dawson, Valina L. Dawson, Chantal Depondt, Michael L. DiLuna, Salvatore DiMauro, Michel D. Ferrari, David J. Fink, Alexander Flügel, Rune R. Frants, Joseph C. Glorioso, Peter J. Goadsby, Alan L. Goldin, Murat Gunel, Noam Y. Harel, Ingo Helbig, Thomas M. Hemmen, Fuki M. Hisama, Bradley T. Hyman, Martin Ingelsson, Dennis R. Johnson, John Kamholz, Marcus Kaul, Jeffery D. Kocsis, Gert Jan Lammers, James F. Leckman, Jun Li, Stuart A. Lipton, Nicholas J. Maragakis, P. Mehlen, Richard I. Morimoto, Kai Orton, Sebastiaan Overeem, Laurie Ozelius, Massimo Pandolfo, Juan M. Pascual, Henry L. Paulson, Stephen J. Peroutka, Ognen A.C. Petroff, Christopher B. Ransom, R.V. Rao, Neggy Rismanchi, Jeffrey D. Rothstein, Joseph M. Savitt, Ingrid E. Scheffer, Eric A. Schon, Michael Shy, Stephen M. Strittmatter, Mehdi Tafti, Gamze Tanriover, Sokol V. Todi, Arn M.J.M. van den Maagdenberg, Jeffery M. Vance, Angela Vincent, Cindy Voisine, Stephen G. Waxman, Hartmut Wekerle, Aislinn J. Williams, John N. Wood, Yvonne S. Yang, and Justin A. Zivin

Published
2007
Full Text
View/download PDF

15. Inherited myoclonus-dystonia

Author

Rachel, Saunders-Pullman, Laurie, Ozelius, and Susan B, Bressman

Subjects
Myoclonus, Dystonia, Humans, Molecular Biology
Published
2002

Catalog

Books, media, physical & digital resources
See catalog results