Abstract

In the last year we have identified an additional cause of an atypical form of BVVL (in preparation). In addition we have identified a known SCA mutation causing SCA14. We have in addition, identified the cause of recessive forms of ataxia in 8 in bred families, and this work has revealed 2 novel genetic loci and mutations for this disease (in press). 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.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000958-10
Application #
8552530
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
2012
Total Cost
$489,703
Indirect Cost

  Institution

Name
National Institute on 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