Abstract

The identification of gene mutations causing disease lends new insight into the patogenesis and etiology of the disorder. In collaboration with NINDS and NHGRI we are performing a whole genome scan of families with a variety of neurological diseases. We are assessing two families with Parkinson's disease (PD), a large kindred from Columbia with Blepharospasm and a family with dystonia associated with pain. The genome wide scan in these families is being performed in collaboration with the linkage analysis core of LNG using a 5cM linkage panel and is currently 80% complete. Data management and analysis is being performed using a custom database and linkage interface designed by the bioinformatics and computational biology core of LNG.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Intramural Research (Z01)
Project #
1Z01AG000958-01
Application #
6815590
Study Section
(LNG)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
2003
Total Cost
Indirect Cost

  Institution

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

  Publications

Hammer, Monia B; Ding, Jinhui; Mochel, Fanny et al. (2017) SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. Neurodegener Dis 17:208-212
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
Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa et al. (2016) Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet 98:500-513
Lesage, Suzanne; Bras, Jose; Cormier-Dequaire, Florence et al. (2015) Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet 1:e9
Federoff, Monica; Schottlaender, Lucia V; Houlden, Henry et al. (2015) Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res 25:19-36
Johnson, Janel O; Stevanin, Giovanni; van de Leemput, Joyce et al. (2015) A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 30:262-6
Ghani, Mahdi; Lang, Anthony E; Zinman, Lorne et al. (2015) Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging 36:545.e9-14
Xi, Zhengrui; Yunusova, Yana; van Blitterswijk, Marka et al. (2014) Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology 83:1476-8
Tucci, Arianna; Kara, Eleanna; Schossig, Anna et al. (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat 34:296-300
Siitonen, A; Majounie, E; Federoff, M et al. (2013) Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol 20:e59

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