There has been tremendous progress toward understanding the genetic basis of
Parkinson's disease and related movement disorders. We summarize the genetic, clinical …

Abstract Charcot–Marie–Tooth disease (CMT) refers to a group of inherited neuropathies
with a broad range of phenotypes, inheritance patterns and causative genes. The number of …

Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Thirteen families have been described with an autosomal dominantly inherited dementia
named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP …

Mutations at codon 717 in exon 17 of the β–amyloid precursor protein (APP) gene have
previously been shown to segregate with early onset Alzheimer's disease in some families …

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 …

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 …

A MUTATION at codon 717 of the β-amyloid precursor protein gene has been found to
cosegregate with familial Alzheimer's disease in a single family1. This mutation has been …

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 …

Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …