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. Over the last period this work has resulted in the identification of several causes of monogenic forms of disease and the assessment of known loci in new families. Most notably we identified VPS13C mutations as a cause of Parkinson's disease and show that this protein interacts with other proteins implicated in the disease process.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000958-14
Application #
9345260
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
14
Fiscal Year
2016
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
Bras, Jose; Djaldetti, Ruth; Alves, Ana Margarida et al. (2016) Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging 46:236.e1-6
Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia et al. (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139:1904-18
Sassi, Celeste; Capozzo, Rosa; Gibbs, Raphael et al. (2016) A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis 53:475-85

Showing the most recent 10 out of 66 publications