Abstract

Our current efforts revolve around exome sequencing within families with neurological disease;this is primarily centered on young onset, and probably autosomal recessive, forms of common neurological diseases, with a focus on Parkinson's disease, Alzheimer's disease, frontotemporal dementia, atypical dementias, and ataxias. We have identified a list of 5 genes for ataxia and are currently working on replication of these in a large cohort of cases collected from France and UK. We have also been working on identifying novel genetic causes of monogenic forms of early onset Parkinson's disease, and have identified a novel gene that causes autosomal recessive Parkinson's disease.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000958-12
Application #
8931639
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
12
Fiscal Year
2014
Total Cost
Indirect Cost

  Institution

Name
Aging
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

McMillan, Hugh J; Telegrafi, Aida; Singleton, Amanda et al. (2018) Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet J Rare Dis 13:86
Mendoza-Ferreira, Natalia; Coutelier, Marie; Janzen, Eva et al. (2018) Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet 4:e209
Coutelier, Marie; Hammer, Monia B; Stevanin, Giovanni et al. (2018) Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurol 75:591-599
Siitonen, Maija; Börjesson-Hanson, Anne; Pöyhönen, Minna et al. (2017) Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. Brain :
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
Urkasemsin, G; Nielsen, D M; Singleton, A et al. (2017) Genetics of Hereditary Ataxia in Scottish Terriers. J Vet Intern Med 31:1132-1139
Siitonen, Ari; Nalls, Michael A; Hernández, Dena et al. (2017) Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. Neurobiol Aging 53:195.e7-195.e10
Wang, Yubin; Hersheson, Joshua; Lopez, Dulce et al. (2016) Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Rep 16:79-91
Mehta, Shyamal H; Dickson, Dennis W; Morgan, John C et al. (2016) Juvenile onset Parkinsonism with ""pure nigral"" degeneration and POLG1 mutation. Parkinsonism Relat Disord 30:83-5
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

Showing the most recent 10 out of 66 publications