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.

National Institute of Health (NIH)
National Institute on Aging (NIA)
Intramural Research (Z01)
Project #
Application #
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
United States
Zip Code
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
Hammer, M B; Eleuch-Fayache, G; Gibbs, J R et al. (2013) Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. Eur J Neurol 20:486-92
Sumner, Charlotte J; d'Ydewalle, Constantin; Wooley, Joe et al. (2013) A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet 93:976-83

Showing the most recent 10 out of 42 publications