Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

[This corrects the article DOI: 10.1371/journal.pone.

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the genetic cause of disease.

Low frequency of GCH1 and TH mutations in Parkinson's disease.

Background: The causes of Parkinson's disease (PD) are unknown in the majority of patients. The GCH1 gene encodes GTP-cyclohydrolase I, an important enzyme in dopamine synthesis. Co-occurrence of dopa-responsive dystonia (DRD) and a PD phenotype has been reported in families with GCH1 mutations.

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e.

Fine mapping and resequencing of the PARK16 locus in Parkinson's disease.

The PARK16 locus, spanning five genes on chromosome 1, was among the first genetic regions to show genome-wide association in Parkinson's disease (PD). Subsequent investigations have found variability in PARK16 top-hits and association patterns across populations, and the implicated genes and mechanisms are currently unclear. In the present study, we aimed to explore the contribution of PARK16 variability to PD risk in a Scandinavian population.

Parkinson's disease correlates with promoter methylation in the α-synuclein gene.

Background: Genome-wide association studies have demonstrated association between SNCA variability and susceptibility to Parkinson's disease, but causal mechanisms are unclear. We hypothesized that risk variants affect methylation of a putative promoter in SNCA intron 1, previously highlighted in epigenetic studies of Parkinson's disease.

Methods: We analyzed sample sets from blood (n = 72) and cerebral cortex (n = 24) in Parkinson's disease patients and healthy controls.

Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.

Next-generation sequencing technologies will dominate the next phase of discoveries in human genetics, but considerable costs may still represent a limitation for studies involving large sample sets. Targeted capture of genomic regions may be combined with deep sequencing of DNA pools to efficiently screen sample cohorts for disease-relevant mutations. We designed a 200 kb HaloPlex kit for PCR-based capture of all coding exons in 71 genes relevant to Parkinson's disease and other neurodegenerative disorders.

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Objectives: Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. This disorder is most probably underdiagnosed. To date, only 44 cases have been described in the literature.

A study of inherited short tail and taillessness in Pembroke Welsh corgi.

Objectives: To study whether natural short tail in adult Pembroke Welsh corgi is associated with congenital spinal defects. To report anatomical defects in two newborn tailless puppies from short-tailed parents, and to check whether they were homozygous for the dominant mutation in the T-gene (C295G).

Methods: The vertebral column of 19 adult dogs with natural short tail, from short-tail x long-tail crossings, was radiographically examined.