Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a g...

α-Synuclein (αSyn) aggregation is involved in the pathogenesis of Parkinson disease (PD). Recently, substitution of histidine 50 in αSyn with a glutamine, H50Q, was identified as a new familial PD mutant. Here, nuclear magnetic resonance (NMR) studies revealed that the H50Q substitution causes an increase of the flexibility of the C-terminal region. This finding provides direct evidence that th...

The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have an increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, and autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced in the peri...

Introduction: Parkinson Disease (PD), the second most common chronic neurodegenerative disorder, is characterized by tremor, bradykinesia, rigidity, and postural instability. SHANK3 (SH3 and multiple ankyrin repeat domain 3) belongs to the extremely conserved ProSAP/ Shank family of synaptic scaffolding proteins. Meanwhile, rs9616915 is a non-synonymous SNP (T>C) located in the exon 6 of the SH...

We evaluated the influence of a neutral peritoneal dialysis solution (PDS) on the peritoneum. The subjects were 10 stable PD patients using conventional PDS. We substituted pH-neutral PDS (PD Solita A: Shimizu Medical, Tokyo, Japan) for conventional PDS (Gambrosol A: Shimizu Medical). Effluent from 4-hour dwells was collected, and the appearance rate of cancer antigen 125 (CA125-AR) was calcula...

The ligand substitution reaction, Pd L(3,2,1)-edge and S K-edge x-ray absorption fine structure (XAFS), XAFS simulations, and valence-band and core-level x-ray photoelectron spectroscopy (XPS) have been used to systematically study the surface chemical and electronic properties of wet-chemically prepared Pd nanoparticles of varied size, molecular capping, and metal composition. It was found tha...

Ligand substitution reactions are ubiquitous in transition-metal chemistry and catalysis. Investigation of ligand substitution reactions for a series of electron-rich palladium(0)-olefin complexes, (bathocuproine)Pd(nitrostyrene) reveals an unprecedented mechanism in which the metal serves as the nucleophilic partner in an "associative" substitution pathway.

OBJECTIVE To determine whether the G-to-A substitution at nucleotide 209 (G209A) mutation in the alpha-synuclein gene is responsible for familial Parkinson disease (PD) in the US population. DESIGN Polymerase chain reaction-based DNA analysis of consecutive patients with PD and family history of PD. SETTING A university-affiliated movement disorder clinic and a Veterans Affairs clinical res...

abstract background and objective: parkinson's disease (pd) is an age-related neurodegenerative disorder with massive loss of dopaminergic neurons in the substantia nigra pars compacta. l-dihydroxyphenylalanine (l-dopa) substitution is still the gold standard therapy for pd. however, there has been little information available on neuroprotective and regenerative therapies for pd. due to the neu...