This year we have published 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.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000957-11
Application #
8736667
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2013
Total Cost
$343,969
Indirect Cost
Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
Zip Code
Lubbe, Steven J; Escott-Price, Valentina; Brice, Alexis et al. (2016) Is the MC1R variant p.R160W associated with Parkinson's? Ann Neurol 79:159-61
Sassi, Celeste; Ridge, Perry G; Nalls, Michael A et al. (2016) Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One 11:e0150079
Sassi, Celeste; Nalls, Michael A; Ridge, Perry G et al. (2016) ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiol Aging 46:235.e1-9
Gao, Jianjun; Liu, Rui; Zhao, Edward et al. (2015) Head injury, potential interaction with genes, and risk for Parkinson's disease. Parkinsonism Relat Disord 21:292-6
Schottlaender, Lucia V; Polke, James M; Ling, Helen et al. (2015) Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging 36:1221.e1-6
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
Broer, Linda; Buchman, Aron S; Deelen, Joris et al. (2015) GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. J Gerontol A Biol Sci Med Sci 70:110-8
Scholz, Sonja W; Majounie, Elisa; Revesz, Tamas et al. (2015) Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging 36:1223.e1-2
Nalls, Mike A; Escott-Price, Valentina; Williams, Nigel M et al. (2015) Genetic risk and age in Parkinson's disease: Continuum not stratum. Mov Disord 30:850-4
Nalls, Mike A; Bras, Jose; Hernandez, Dena G et al. (2015) NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 36:1605.e7-12

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