Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous
studies; however, a large portion of the genetic risk for this disease remains unexplained. …

The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1
mutations are associated with PARK7, a monogenic form of human parkinsonism. The function …

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …

Background Recent studies indicate an increased frequency of mutations in the gene
encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among …

We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six …

Background Mutations in the parkin gene have recently been identified in patients with early-onset
Parkinson's disease, but the frequency of the mutations and the associated …

Background Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a
cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to …

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 …

We report duplication of the APP locus on chromosome 21 in five families with autosomal
dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). …

Research in Parkinson's disease (PD) genetics has been extremely prolific over the past
decade. More than 13 loci and 9 genes have been identified, but their implication in PD is not …