Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …

▪ Abstract Several genes have been identified for monogenic disorders that variably resemble
Parkinson's disease. Dominant mutations in the gene encoding α-synuclein enhance the …

Parkinson's disease, like many common age-related conditions, is now recognized to have
a substantial genetic component. Here, I discuss how mutations in a large complex gene — …

We examined a large family with autosomal dominant PD (average age of onset, 34 years),
ranging clinically from dementia with Lewy bodies to typical PD (3). Neuropathological …

Loss-of-function mutations in PINK1 and Parkin cause parkinsonism in humans and
mitochondrial dysfunction in model organisms. Parkin is selectively recruited from the cytosol to …

We performed a genome-wide association study (GWAS) in 1,713 individuals of European
ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases …

Background Genome-wide association studies (GWAS) in Parkinson's disease have increased
the scope of biological knowledge about the disease over the past decade. We aimed to …

Loss-of-function DJ-1 mutations can cause early-onset Parkinson's disease. The function of
DJ-1 is unknown, but an acidic isoform accumulates after oxidative stress, leading to the …

A fundamental challenge in the post-genome era is to understand and annotate the consequences
of genetic variation, particularly within the context of human tissues. We present a set …

Mutations in the LRRK2 gene, coding for dardarin, cause dominantly inherited Parkinson's
disease (PD). Dardarin is a large protein, and mutations are found throughout the gene …