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PROGENI Study Papers
The PROGENI study has published numerous studies that have described our progress as we seek to identify genes that help contribute to whether or not and individual will develop Parkinson’s disease.

If you would like to receive a copy of one or more of these papers, please contact us at progeni@iupui.edu or by telephone at 1-888-830-6299.

Reviews of the genetics of Parkinson Disease
Scientific reviews are papers that summarize the current knowledge and latest publications in a field of study. These reviews were written by PROGENI investigators. They summarize the genetics of PD and discuss the role of individual genes in the risk for PD.

  • Foroud T, Pankratz N.  Genetics of Parkinson Disease.  Genetics in Medicine 9(12):801-811, 2007 Dec. (This is the most recent review with the most comprehensive information)

  • Pankratz N, Wojcieszek J, Foroud T (updated October 2006) Parkinson Disease Overview in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle.  1997-2006.  Available at http://www.genetests.org.

  • Foroud T, Pankratz N. Genetics of Parkinson Disease. NeuroRx 1(2):235-242, 2004 Apr.

Studies of LRRK2

  • Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, Parkinson Study Group—PROGENI Investigators.  Genetic screening for a single common LRRK2 mutation in familial Parkinson disease.  Lancet 365(9457): 410–412, 2005 Jan.  (Mutations in LRRK2 are found in 5% of PROGENI study families)

  • Foroud T.  LRRK2:  Both a cause and a risk factor for Parkinson disease?  (editorial) Neurology 65:664-665, 2005 Sep.  (Not all individuals with a mutation in LRRK2 will develop PD; caution is advised in screening for mutations)

  • Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Utti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F.  Clinical features of Parkinson’s disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.  Archives of Neurology 63(9):1250-1254, 2006 Sep.  (Individuals with an LRRK2 mutation on both copies of the gene do not have more severe clinical features of PD or earlier onset of disease as compared with those who carry a mutation in only of the two copies)

  • Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, Nichols WC, Parkinson Study Group—PROGENI Investigators.  Mutations in LRRK2 other than G2019S are rare in a North American-based sample of familial Parkinson disease.  Movement Disorders 21(12):2257-2260, 2006 Dec(Only the G2019S mutation in the LRRK2 gene appears to be ‘common’ in a North American sample of familial PD)

  • Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter C, Rudolph A, Shults C, Wojcieszek J, Foroud T, Parkinson Study Group-PROGENI Investigators. R1514Q substitution in LRRK2 is not a pathogenic Parkinson disease mutation.  Movement Disorders 22(2):254-257, 2007 Jan. (A change in an amino acid in LRRK2, called R1514Q, does not increase the risk for PD)

  • Nichols WC, Elsaesser VE, Pankratz N, Pauciulo MW, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, for the Parkinson Study Group—PROGENI Investigators.  LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.  Neurology 69(18):1737-1744, 2007 Oct. (Screening of the entire LRRK2 gene in a subset of the PROGENI sample, identifies several new mutations in LRRK2 that have not been previously reported)

  • Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson M, Tan E-K, Gaig C, Tolosa E, Goldwrum S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, DeDeyn PP, Engelborghs S, Pickut B, Utti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, VanBroeckhoven C, Farrer MJ, Wszolek ZK.  Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson’s disease.  Neurology, 70(16 Pt 2):1456-1460, 2008 Apr. (PD patients with the R1441C mutation in LRRK2 have disease symptoms similar to that seen in sporadic PD)

Studies of PRKN

  • Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T, Parkinson Study Group.  Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson’s disease families. (letter) Journal of Medical Genetics 39(7):489-492, 2002 Jul. (Mutation in PRKN are found in PROGENI subjects)

  • Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C, Shults C, Marder K, Conneally PM, Nichols WC and the Parkinson Study Group. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson Disease.  Neurology 60(5): 796-801, 2003 Mar. (Individuals with a mutation in only one of the two copies of the PRKN gene appear to have later onset PD as compared to those with mutations in both copies)

Studies of other genes

  • Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Shults CW, Foroud T, Nichols WC, Parkinson Study Group-PROGENI Investigators.  Mutations in DJ-1 are rare in familial Parkinson disease.  Neuroscience Letters 408(3):209-213, 2006 Nov. (No mutations in DJ-1 were found in a screened subset of PROGENI participants)

  • Nichols WC, Uniacke SK, Pankratz N, Reed T, Simon DK, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Parkinson Study Group.  Evaluation of the role of Nurr1 in a large sample of familial Parkinson disease.  Movement Disorders 19(6):649-655, 2004 Jun. (No mutations in Nurr1 were found in a screened subset of PROGENI participants)

  • Pankratz N, Byder L, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC, the Parkinson Study Group—PROGENI Investigators. Presence of an APOE4 allele results in significantly earlier onset of Parkinson’s disease and a higher risk with dementia.  Movement Disorders 21(1):45-49, 2006 Jan. (APOE4 allele results in earlier onset of PD and may also increase the risk of PD with dementia)

  • Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Pfeiffer RF, Foroud T, for the Parkinson Study Group – PROGENI Investigators.  Alpha-synuclein and familial Parkinson disease:  Dosage and Rep1 promoter variation. Movement Disorders, in press. (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)

  • Nichols, et al.  Mutations in the glucocerebrosidase gene are associated with familial Parkinson disease.  Neurology, 27;72(4):310-6, 2009 Jan (GBA is a susceptibility gene for familial PD and patients with GBA variants have an early AOO than patients without GBA variations)

  • Pankratz, N, Wilk, JB, Latourelle, J, DeStefano, AL, Halter, C, Pugh, EW, Doheny, KF, Gusella, JF, Nichols, WC, Foroud, T, Myers, RH, and the PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories.  Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Human Genetics 124(6):593-605 2009 Jan. (Testing DNA markers through the genome, evidence for new susceptibility alleles for PD in the GAK/DGKQ region are found along with further support for the role of SNCA and MAPT in PD susceptibility)

  • Nichols, WC, Kissell, DK, Pankratz, N, Pauciulo, MW, Elsaesser, VE, Clark, KA, Halter, CA, Rudolph, A, Wojcieszek, J, Pfeiffer, RF, Foroud, T, for the Parkinson Study Group – PROGENI Investigators, Variation in GIGYF2 is not associated with Parkinson disease, DOI 10.1212/01.wnl.0000346517.98982.1b. (Variation in a gene other that GIGYF2 accounts for the previously reported linkage finding on Chromosome 2q36-37)

Studies to find genes for PD susceptibility

  • Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T and the Parkinson Study Group. Genome screen to identify susceptibility genes for Parkinson Disease in a sample without parkin mutations. American Journal of Human Genetics 71(1):124-135, 2002 Jul. (Testing DNA markers throughout the genome, evidence for genes increasing the risk for PD are found on several chromosomes)

  • Pankratz P, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T and the Parkinson Study Group. Significant Linkage of Parkinson Disease to Chromosome 2q36-37.  American Journal of Human Genetics 72(4):1053-1057, 2003 Apr. (Evidence for a gene on chromosome 2q appears to be strongest in those families with a strong family history of PD)

  • Pankratz N, Nichols WC, Uniacke SK, Halter C, Murrell J, Rudolph A, Shults CW, Conneally PM, Foroud T, Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.  Human Molecular Genetics 12(20):2599-2608, 2003 Oct. (Testing DNA markers throughout the genome, evidence for genes increasing the risk for PD are found on several chromosomes)

  • Pankratz N, Uniacke SK, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC, Parkinson Study Group.  Genes influencing Parkinson disease onset: Replication of PARK3 an identification of novel loci.  Neurology 62(9):1616-1618, 2004 May.  (Testing DNA markers throughout the genome, evidence for genes influencing when an individual develops PD is found on several chromosomes)

  • Foroud T, Pankratz N, Martinez M, PROGENI/GSPD-European Consortium. Chromosome 5 and Parkinson Disease.  European Journal of Human Genetics 14:1106-1110, 2006 Oct. (Study funded by the Michael J. Fox Foundation to combine data between PROGENI and the GSPD-European Consortium does not find evidence for a gene on chromosome 5 that increases the risk for PD)

Clinical studies of Parkinson disease

  • Reider CR, Halter CA, Castellucio PF, Oakes D, Nichols WC, Foroud T, Parkinson Study Group.  Reliability of reported age at onset for Parkinson’s disease.  Movement Disorders 18(3):275-279, 2003 Mar. (Age of onset of PD is collected reliably from medical records, the family history questionnaire used in PROGENI and by self report by the subject at the time of the study evaluation)

  • Pankratz N, Marder KS, Halter CA, Rudolph A, Shults CW, Nichols WC, Foroud T, Parkinson Study Group—PROGENI Investigators.  Clinical correlates of depressive symptoms in familial Parkinson's disease Movement Disorders, 23 (15): 2216-2223, 2008 Nov. (Stage of illness, motor impairment and functional disability are strongly correlated with symptoms of depression)

  • Bleckher, T, Weaver, M, Rupp, J, Nichols, WC, Hui, SL, Gray, J, Yee, RD, Wojcieszek, Foroud, T. Multiple step pattern as a biomarker in Parkinson disease. Parkinsonism and Related Disorders 2009 Feb 9 [Epub ahead of print] PMID: 19211293. (Abnormalities in eye movement measures appear to be sensitive and specific measures in PD patients and subset at-risk for PD)
 
 

 

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