Research Topics
Species | R OttmanSummaryAffiliation: Columbia University Country: USA Publications
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Publications
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAFYuan Yuan Ho
Department of Psychiatry, Columbia University, New York, NY, USA
Neurology 78:563-8. 2012....- Recruitment of families for genetic studies of epilepsyRuth Ottman
G H Sergievsky Center and Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York 10032, USA
Epilepsia 46:290-7. 2005..Here we describe the strategy used for data collection in a genetic linkage study, to provide guidelines for efficient design of new studies... - LGI1 mutations in autosomal dominant partial epilepsy with auditory featuresR Ottman
Gertrude H Sergievsky Center, Columbia University, New York, NY 10032, USA
Neurology 62:1120-6. 2004..The authors aimed to determine what proportion of ADPEAF families carries a mutation, to estimate the penetrance of identified mutations, and to identify clinical features that distinguish families with and without mutations... - Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory featuresMichael J Rosanoff
G H Sergievsky Center, Columbia University, 630 W 168th Street, P and S Box 16, New York, NY 10032, USA
Neurology 71:567-71. 2008..The current study aimed to provide a more precise estimate of LGI1 mutation penetrance... - Progress in the genetics of the partial epilepsiesR Ottman
Gertrude H Sergievsky Center and Mailman School of Public Health Department of Epidemiology Columbia University, New York, New York 10032 3702, USA
Epilepsia 42:24-30. 2001..In nocturnal frontal lobe epilepsy, the genes on chromosome 20q and 1q have been identified as subunits of the neuronal nicotinic acetylcholine receptor... - Altered language processing in autosomal dominant partial epilepsy with auditory featuresR Ottman
G H Sergievsky Center, Columbia University, 630 W 168th Street, P and S Box 16, New York, NY 10032, USA
Neurology 71:1973-80. 2008..We attempted to replicate this finding and to assess auditory and language processing in ADPEAF using fMRI and magnetoencephalography (MEG)... - Validation of a brief screening instrument for the ascertainment of epilepsyRuth Ottman
G H Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, Mailman School of Public Health, Columbia University, New York, New York 10032, USA
Epilepsia 51:191-7. 2010..To validate a brief screening instrument for identifying people with epilepsy in epidemiologic or genetic studies... - Genetic testing in the epilepsies--report of the ILAE Genetics CommissionRuth Ottman
G H Sergievsky Center and Department of Epidemiology, Columbia University, New York, NY, USA
Epilepsia 51:655-70. 2010..Given the current state of knowledge, genetic testing has high clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice... - Accuracy of family history information on epilepsy and other seizure disordersR Ottman
G H Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Neurology 76:390-6. 2011..The accuracy of this type of information for epilepsy and other seizure disorders is unclear... 
Comorbidities of epilepsy: results from the Epilepsy Comorbidities and Health (EPIC) surveyRuth Ottman
G H Sergievsky Center and Department of Epidemiology, Columbia University, New York, New York 10032, USA
Epilepsia 52:308-15. 2011..To estimate the prevalence of neuropsychiatric and pain disorders in adults with epilepsy in the United States...- Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson diseaseL N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Neurology 69:1270-7. 2007..To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study... - Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD studyR N Alcalay
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Neurology 78:1434-40. 2012..To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD)... - The relation between depression and parkin genotype: the CORE-PD studyA Srivastava
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Parkinsonism Relat Disord 17:740-4. 2011..Genetic factors for depression are similarly not well characterized. We investigate the role of parkin mutations in depression among those with EOPD and their relatives... 
Frequency of LRRK2 mutations in early- and late-onset Parkinson diseaseL N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, P and S Building, 14 434, 630 West 168th Street, New York, NY 10032, USA
Neurology 67:1786-91. 2006..To evaluate the frequency of leucine-rich repeat kinase gene (LRRK2) mutations and single nucleotide polymorphisms (SNPs) in early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD)...- Risk of tremor and impairment from tremor in relatives of patients with essential tremor: a community-based family studyE D Louis
Gertrude H Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Ann Neurol 49:761-9. 2001..The majority of the affected relatives can expect to experience impairment resulting from tremor... - Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort methodYuanjia Wang
Department of Biostatistics, Mailman School of Public Health, New York, New York, USA
Arch Neurol 65:467-74. 2008..To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene... - Mild tremor in relatives of patients with essential tremor: what does this tell us about the penetrance of the disease?E D Louis
Gertrude H Sergievsky Center, Columbia University, New York, NY, USA
Arch Neurol 58:1584-9. 2001..Mild tremor may occur in relatives of patients with essential tremor (ET). However, this phenomenon has not been studied quantitatively or with a comparison group. Such a study may provide information on the penetrance of ET... - Familial clustering of seizure types within the idiopathic generalized epilepsiesM R Winawer
G H Sergievsky Center, Columbia University, New York, NY 10032, USA
Neurology 65:523-8. 2005..To examine the genetic relationships among epilepsies with different seizure types--myoclonic, absence, and generalized tonic-clonic--within the idiopathic generalized epilepsies (IGEs)... - Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease studyRoy N Alcalay
Department of Neurology, Columbia University, New York, NY 10032, USA
Arch Neurol 67:1116-22. 2010..To assess the frequency and clinical characteristics of carriers of previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) and provide empirical data that can be used to inform genetic counseling... - Classification of partial seizure symptoms in genetic studies of the epilepsiesH Choi
Department of Neurology, Columbia University, New York, NY 10032, USA
Neurology 66:1648-53. 2006..CONCLUSIONS: Use of standardized definitions for classification of partial seizure symptoms such as those in the Partial Seizure Symptom Definitions should improve reliability and accuracy in future genetic studies of the epilepsies... - Genetic influences on myoclonic and absence seizuresM R Winawer
G.H. Sergievsky Center, Department of Neurology, Columbia University, New York, NY 10032, USA
Neurology 61:1576-81. 2003..The approach presented here can also be used to discover other clinical features that could direct division of epilepsies into groups likely to share susceptibility genes... - Localization of a gene for partial epilepsy to chromosome 10qR Ottman
G H Sergievsky Center, School of Public Health, Columbia University, New York, New York 10032, USA
Nat Genet 10:56-60. 1995..83 at theta = 0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval... - Relations of genetic and environmental factors in the etiology of epilepsyR Ottman
Department of Neurology, Columbia University, New York, USA
Ann Neurol 39:442-9. 1996..These findings support the possibility of shared genetic susceptibility to epilepsy and cerebral palsy, and suggest that the genetic contributions to postnatal symptomatic epilepsy are minimal... - Autosomal dominant partial epilepsy with auditory features: defining the phenotypeM R Winawer
G.H. Sergievsky Center and Mailman School of Public Health, Department of Neurology, Columbia University, New York, NY 10032, USA
Neurology 54:2173-6. 2000..The clinical semiology points to a lateral temporal seizure origin. Auditory hallucinations, the most striking clinical feature, are useful for identifying new families with this synome... - Evidence for familial aggregation of tremor in normal individualsE D Louis
Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Neurology 57:110-4. 2001..Other studies might be designed by investigators to identify these genes through genetic linkage or association analysis. Identification of such genes would help to elucidate the mechanisms underlying this ubiquitous condition... - Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory featuresSergey Kalachikov
Columbia Genome Center, Columbia University, 630 W 168 Street, P and S Box 16, New York, New York 10032, USA
Nat Genet 30:335-41. 2002..Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies... - Subclinical tremor in normal controls with versus without a family history of essential tremor: data from the United States and TurkeyE D Louis
GH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Eur J Neurol 17:607-11. 2010..We determined whether normal controls who report a family history of ET have greater action tremor than normal controls who do not report such a history... - Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24Melodie R Winawer
G. H. Sergievsky Center, Columbia University, New York, NY 10032, USA
Epilepsia 43:60-7. 2002..Molecular studies aimed at the identification of the causative gene are underway... - Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's diseaseRoy N Alcalay
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
J Clin Exp Neuropsychol 32:775-9. 2010..GBA carriers reported more impairment, but MMSE performance did not differ among genetic groups. Detailed neuropsychological testing is required to explore the association between cognitive impairment and GBA mutations... - Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD studyR N Alcalay
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Neurology 76:319-26. 2011..Whether olfaction differs between Parkin mutation heterozygotes and carriers of 2 Parkin mutations (compound heterozygotes) is unknown... - Family history information on essential tremor: potential biases related to the source of the casesE D Louis
Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
Mov Disord 16:320-4. 2001..Because of these biases, the source of the cases must be taken into consideration when investigators are trying to synthesize the widely variable results of studies that have estimated the genetic contribution to ET... - Accuracy of family history data on Parkinson's diseaseK Marder
Department of Neurology, Columbia University, New York, USA
Neurology 61:18-23. 2003..Genetic studies of PD frequently rely on family history interviews (FHI), yet the accuracy of data obtained in this way is unclear... - Risk of epilepsy in offspring of affected women: association with maternal spontaneous abortionN Schupf
Laboratory of Epidemiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Neurology 57:1642-9. 2001.... - Specificity of the fivefold increase in AD in mothers of adults with Down syndromeN Schupf
Laboratory of Epidemiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
Neurology 57:979-84. 2001.... - Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson diseaseRoy N Alcalay
Department of Neurology, Columbia University, New York, NY 10032, USA
Arch Neurol 66:1517-22. 2009.... - Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease studyKaren S Marder
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, 630 W 168th St, Unit 16, New York, NY 10032, USA
Arch Neurol 67:731-8. 2010..Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date... - Analysis of genetically complex epilepsiesRuth Ottman
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA
Epilepsia 46:7-14. 2005..Collaborative studies are essential to achieve these goals... - A population-based study of mortality in essential tremorElan D Louis
G H Sergievsky Center and Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Neurology 69:1982-9. 2007..Because ET is common, particularly among older adults, an influence of ET on the life span would have important public health implications. The authors compared the risks of mortality in patients with ET and control subjects without ET... - Case-control study of the parkin gene in early-onset Parkinson diseaseLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Arch Neurol 63:548-52. 2006..To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls... - Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutationsLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, New York, New York, USA
Mov Disord 19:796-800. 2004..Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases... - Study of possible factors associated with age of onset in essential tremorElan D Louis
Gertrude H Sergievsky Center, Columbia University, New York, New York, USA
Mov Disord 21:1980-6. 2006..This study did not detect any other exposures that modified the age of onset of ET. Follow-up studies are needed to examine additional factors of potential interest... - Familial aggregation of early- and late-onset Parkinson's diseaseKaren Marder
Department of Neurology, Columbia University, New York, NY, USA
Ann Neurol 54:507-13. 2003..Genetic factors are important in both early- and late-onset PD, but specific genes and mode of inheritance may differ between the two groups... - Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia geneGary A Heiman
Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York, New York 10032, USA
Am J Med Genet B Neuropsychiatr Genet 144:361-4. 2007..We found that OCD/OCS are not increased in DYT1 mutation carriers compared with NC, nor is OCD associated with manifesting DYT1 dystonia... - A method for estimating penetrance from families sampled for linkage analysisYuanjia Wang
Department of Statistics, Columbia University, New York, New York 10027, USA
Biometrics 62:1081-8. 2006..The purpose here is to present an approach to adjusting for the potential bias while using the families from linkage analysis to estimate the risk... - Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin geneLorraine N Clark
Department of Pathology, Columbia University, New York, New York 10032, USA
Mov Disord 22:932-7. 2007..Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives... - Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicityLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, New York, New York, USA
Mov Disord 20:100-3. 2005..4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study... - Lack of familial aggregation of Parkinson disease and Alzheimer diseaseGilberto Levy
Statistical Analysis Center, Department of Biostatistics, Columbia University, 630 W. 168th Street, New York, NY 10032, USA
Arch Neurol 61:1033-9. 2004..CONCLUSION: The lack of familial aggregation of PD and AD does not support the hypothesis of major shared genetic contributions to the etiology of the 2 most common neurodegenerative disorders... - Increased risk for recurrent major depression in DYT1 dystonia mutation carriersG A Heiman
Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York 10032, USA
Neurology 63:631-7. 2004..This comorbidity could be a reaction to a chronic debilitating disorder or expression of a predisposing gene. The authors took advantage of the identification of a gene for dystonia, DYT1, to test these alternative explanations... - Concordance of disease form in kindreds ascertained through affected individualsMelodie Winawer
G.H. Sergievsky Center and Mailman School of Public Health (Epidemiology Division, Columbia University, New York 10027, USA
Stat Med 21:1887-97. 2002..The approaches are illustrated through an application to the generalized and localization-related forms of epilepsy... - Risk of action tremor in relatives of tremor-dominant and postural instability gait disorder PDE D Louis
G H Sergievsky Center, Taub Institute for Alzheimer s Disease, Columbia University, New York, NY, USA
Neurology 61:931-6. 2003..This tremor could represent mild PD or essential tremor. An estimate of the risk of this condition in families of patients with PD is important when studying the genetics of PD... - Evidence for distinct genetic influences on generalized and localization-related epilepsyMelodie Rose Winawer
G. H. Sergievsky Center, and Departments of Neurology Statistics Epidemiology, Mailman School of Public Health, Columbia University, New York, New York 10032, USA
Epilepsia 44:1176-82. 2003..Population-based studies will be needed to explore these results further... - Ethical, legal, and social dimensions of epilepsy geneticsSara Shostak
Department of Sociology, Brandeis University, Waltham, Massachusetts 02454 9110, USA
Epilepsia 47:1595-602. 2006..We review the genetic and social dimensions of epilepsy relevant to understanding the complex questions raised by epilepsy genetics... - A link between ALS and short residence on GuamDanielle Majoor-Krakauer
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
Neurology 64:1819-20. 2005 - Screen for expanded FMR1 alleles in patients with essential tremorDolores Garcia Arocena
Department of Biological Chemistry, University of California, Davis, School of Medicine, Davis, California 95616, USA
Mov Disord 19:930-3. 2004..Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles... - Familial aggregation of Paget's disease of bone. 1991Ethel S Siris
J Bone Miner Res 20:542-7. 2005 - Genetics of epilepsy: epilepsy research foundation workshop reportSanjay Sisodiya
Epilepsy Research Foundation, United Kingdom
Epileptic Disord 9:194-236. 2007..Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy...
Research Grants
- GENETIC EPIDEMIOLOGY OF SEIZURE DISORDERS IN ROCHESTERRuth Ottman; Fiscal Year: 2006..abstract_text> ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2006..abstract_text> ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2003..abstract_text> ..
- GENETIC EPIDEMIOLOGY OF FAMILIAL EPILEPSYRuth Ottman; Fiscal Year: 2001..g., generalized epilepsy, localization-related epilepsy). ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 1999..g., generalized epilepsies, isolated unprovoked seizures, febrile convulsions, and/or alcohol-related seizures), by comparing the proportion affected with these disorders among individuals likely, and not likely, to be gene carriers. ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2007..abstract_text> ..