Abstract

This year we have performed an assessment of APOE variability in Parkinson's disease, as all previous studies provided somewhat unclear results. This work involved analysis of the common coding variants (epsilon types) in APOE in a very large cohort of PD patients and now provides a clear message regarding APOE and PD. We continue to perform an assessment of candidate loci for recessive ataxia in a series of patients from Tunisia who have ataxia. This work allows us to parse such families into those with known mutations, and those that should be prioritized for further genetic work aimed at finding new genetic causes of disease, and the last year has seen publication of this work, showing that exome sequencing is an efficient method to find such mutations. In addition, this year, we identified the cause of a form of childhood onset motor neuron disease, in the form of mutations in a riboflavin transporter.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000957-10
Application #
8552529
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
2012
Total Cost
$592,140
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
Roosen, Dorien A; Singleton, Andrew B (2018) Leucine rich repeat kinase knockout (LRRK KO) mouse model: Linking pathological hallmarks of inherited and sporadic Parkinson's disease. Mov Disord 33:72
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
Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana et al. (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging 49:214.e13-214.e15
Darwent, Lee; Carmona, Susana; Lohmann, Ebba et al. (2017) Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiol Aging 58:240.e1-240.e3
Guven, Gamze; Lohmann, Ebba; Bras, Jose et al. (2016) Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One 11:e0162592

Showing the most recent 10 out of 75 publications