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.

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National Institute on Aging (NIA)
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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
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
Dong, Jing; Gao, Jianjun; Nalls, Michael et al. (2014) Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging 35:1512.e5-10
Agler, Caryline; Nielsen, Dahlia M; Urkasemsin, Ganokon et al. (2014) Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet 10:e1003991
Singleton, Andrew B (2014) Genetics. A unified process for neurological disease. Science 343:497-8
Paisán-Ruiz, Coro; Lewis, Patrick A; Singleton, Andrew B (2013) LRRK2: cause, risk, and mechanism. J Parkinsons Dis 3:85-103
Bettencourt, Conceicao; Morris, Huw R; Singleton, Andrew B et al. (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol 260:2414-6
Trabzuni, Daniah; Ryten, Mina; Emmett, Warren et al. (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One 8:e70724
Neumann, Juliane; Bras, Jose; Deas, Emma et al. (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 132:1783-94
Brooks, J; Ding, J; Simon-Sanchez, J et al. (2009) Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet 46:375-81

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