Abstract

During the past year we have focussed much of our efforts on identifying the extent and nature of LRRK2 mutation and variation. This work has been performed primarily in Parkinsons disease patients. Unlike most protocols we have taken a full screening approach, sequencing all 51 coding exons of LRRK2. In addition we have continued assessment of PARK2, PARK6, PARK7, GCH1, SNCA and TOR1A in both Parkinsons disease and dystonia. This work has lead to the identification of several novel mutations.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Intramural Research (Z01)
Project #
1Z01AG000957-05
Application #
7592083
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
2007
Total Cost
$728,868
Indirect Cost

  Institution

Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Bettencourt, Conceição; Salpietro, Vincenzo; Efthymiou, Stephanie et al. (2017) Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. Orphanet J Rare Dis 12:172
Jansen, Iris E; Ye, Hui; Heetveld, Sasja et al. (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biol 18:22
Hernandez, Dena G; Reed, Xylena; Singleton, Andrew B (2016) Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem 139 Suppl 1:59-74
Barr, Taura L; VanGilder, Reyna; Rellick, Stephanie et al. (2015) A genomic profile of the immune response to stroke with implications for stroke recovery. Biol Res Nurs 17:248-56
Scholz, Sonja W; Majounie, Elisa; Revesz, Tamas et al. (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging 36:1223.e1-2
Scholz, Sonja W; Jeon, Beom S (2015) GBA mutations and Parkinson disease: when genotype meets phenotype. Neurology 84:866-7
Ross, Owen A; Singleton, Andrew B (2012) Does trans size matter in Huntington disease? Neurology 78:686-7
Singleton, Andrew B (2012) Rapid genetic diagnosis in single-gene movement disorders. Mov Disord 27:467-9
Wu, J; Lou, H; Alerte, T N M et al. (2012) Lewy-like aggregation of ?-synuclein reduces protein phosphatase 2A activity in vitro and in vivo. Neuroscience 207:288-97
Majounie, Elisa; Abramzon, Yevgeniya; Renton, Alan E et al. (2012) Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 33:2527.e1-2

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