Research Topics
Species | Nathan D PankratzSummaryAffiliation: Indiana University Country: USA Publications
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Publications
The Familial Intracranial Aneurysm (FIA) study protocolJoseph P Broderick
Department of Neurology, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267 0525, USA
BMC Med Genet 6:17. 2005..The long-term goal of the Familial Intracranial Aneurysm (FIA) Study is to identify genes that underlie the development and rupture of intracranial aneurysms (IA)...- Maternal inheritance and mitochondrial DNA variants in familial Parkinson's diseaseDavid K Simon
Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
BMC Med Genet 11:53. 2010..We investigated the potential contribution of mtDNA variants or mutations to the risk of PD... - Genomewide association study for onset age in Parkinson diseaseJeanne C Latourelle
Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 10:98. 2009..There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age... - Copy number variation in familial Parkinson diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America
PLoS ONE 6:e20988. 2011..Thus, only the CNVs within the PARK2 locus could be molecularly validated and associated with PD susceptibility... - Standard linkage and association methods identify the mechanism of four susceptibility genes for a simulated complex diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University, School of Medicine, Indianapolis, IN, USA
BMC Genet 6:S142. 2005..This highlights the need in real life situations for careful examination of the phenotypic data prior to genetic analysis... - Clinical correlates of depressive symptoms in familial Parkinson's diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana 46202, USA
Mov Disord 23:2216-23. 2008..33; P = 4 x 10(-48)). Contrary to several reports, the results from this large study indicate that stage of illness, motor impairment, and functional disability are strongly correlated with depressive symptoms... - Genomewide association study for susceptibility genes contributing to familial Parkinson diseaseNathan Pankratz
Indiana University School of Medicine, Health Information and Translational Sciences Building, Indianapolis, IN 46202 3002, USA
Hum Genet 124:593-605. 2009..8 x 10(-6); additive model: p = 4.8 x 10(-5)). These data suggest the identification of new susceptibility alleles for PD in the GAK/DGKQ region, and also provide further support for the role of SNCA and MAPT in PD susceptibility... - Alpha-synuclein and familial Parkinson's diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana 46202, USA
Mov Disord 24:1125-31. 2009..29; empirical P-value = 0.01), but not age of onset (P = 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3' region of SNCA convey an increased risk for PD... - Identification of genes for complex disease using longitudinal phenotypesNathan Pankratz
Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
BMC Genet 4:S58. 2003..Power to detect linkage can be improved by identifying the most heritable phenotype, ensuring normality of the trait distribution and maximizing the information utilized through novel longitudinal designs for genetic analysis... - Non-redundant summary scores applied to the North American Rheumatoid Arthritis Consortium datasetNathan D Pankratz
Department of Medical and Molecular Genetics, Indiana University, School of Medicine, Indianapolis, Indiana 46202, USA
BMC Proc 3:S39. 2009..Three regions were identified that had a genome-wide empirical p-value less than 0.01, including one novel region on chromosome 20 near the KCNB1 and PTGIS genes... - A two-stage classification approach identifies seven susceptibility genes for a simulated complex diseaseNathan Pankratz
Department of Medical and Molecular Genetics, 410 West 10th Street, HS4000, Indiana University, Indianapolis, Indiana 46202 3002, USA
BMC Proc 1:S30. 2007..Two additional loci were identified in this fashion, illustrating the usefulness of this two-stage classification approach... 
Hearing impairment susceptibility in elderly men and the DFNA18 locusHolly J Garringer
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA
Arch Otolaryngol Head Neck Surg 132:506-10. 2006..To identify any chromosomal region that shows evidence for linkage to age-related hearing loss in humans...- Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutationsNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA
Am J Hum Genet 71:124-35. 2002..7) and to chromosome 2 (LOD score 2.5). Evidence of linkage was also found to chromosomes 4, 5, and 13 (LOD scores >1.5). Our findings are consistent with those of other linkage studies that have reported linkage to chromosomes 5 and X... - Significant linkage of Parkinson disease to chromosome 2q36-37Nathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202, USA
Am J Hum Genet 72:1053-7. 2003..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... - Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease familiesNathan Pankratz
Indiana University School of Medicine, Department of Medical and Molecular Genetics IB 130, 975 West Walnut Street, Indianapolis, IN 46202 5251, USA
Hum Mol Genet 12:2599-608. 2003..4) and X (LOD=3.2). These findings demonstrate consistent evidence of linkage to chromosomes 2 and X and also support the hypothesis that gene-by-gene interactions are important in PD susceptibility... - Chromosome 5 and Parkinson diseaseTatiana Foroud
Indiana University School of Medicine, Indianapolis, IN 46202 5251, USA
Eur J Hum Genet 14:1106-10. 2006..Evidence for a locus contributing to the age of onset of PD is modest at best (empirical P-value=0.07)... - Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's diseaseNathan Pankratz
Indiana University Medical Center, Indianapolis, Indiana, USA
Mov Disord 21:2257-60. 2006..These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent... - Evaluation of the role of Nurr1 in a large sample of familial Parkinson's diseaseWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Mov Disord 19:649-55. 2004..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... - Genetic screening for a single common LRRK2 mutation in familial Parkinson's diseaseWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Lancet 365:410-2. 2005..Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease... - Genetics of Parkinson diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202 525, USA
NeuroRx 1:235-42. 2004..Important lessons can be learned from the implementation of counseling protocols for other neurodegenerative disorders, such as Huntington disease and Alzheimer disease... - Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementiaNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA
Mov Disord 21:45-9. 2006..It appears the similarities between PD and AD may be due to an overlap in the diseases' genetic etiology... - Genetics of Parkinson diseaseNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202 3002, USA
Genet Med 9:801-11. 2007..Furthermore, because treatment is unaltered by the presence or absence of mutations in these genes, restraint is recommended when considering the value of screening for mutations in a clinical setting... - Issues in association mapping with high-density SNP data and diverse family structuresHeike Bickeböller
Department of Genetic Epidemiology, Medical School, Georg August University Gottingen, Humboldtallee 32, D 37073 Gottingen, Germany
Genet Epidemiol 31:S22-33. 2007..Aside from these successes, the group 3 contributions highlight some interesting areas for future research... - R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutationWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Mov Disord 22:254-7. 2007..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... - Mutations in DJ-1 are rare in familial Parkinson diseaseNathan Pankratz
Indiana University Medical Center, Indianapolis, IN, USA
Neurosci Lett 408:209-13. 2006..No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD...