Evaluation of the symptomatic treatment of residual neurological symptoms in Wilson disease.

The intention of this analysis was to identify patients with treated Wilson disease (WD) and residual neurological symptoms in order to determine whether or not they were undergoing any treatment in addition to the common decoppering medication. Moreover, the effects of any symptomatic medication were analyzed. Two samples of WD patients were investigated either by a mailed questionnaire survey (n = 135) or by a retrospective analysis (n = 75).

Improved MALDI-TOF imaging yields increased protein signals at high molecular mass.

Matrix assisted laser desorption ionization (MALDI) mass spectrum images are created from an array of mass spectra collected over a tissue surface. We have increased the mass range of proteins that can be detected in tissue sections from kidneys, heart, lung and brain of different rodent species by a modification of the sandwich technique, which involves co-crystallizing matrix with analyte. A tissue section is placed upon a drop of sinapinic acid matrix dissolved in 90% ethanol and 0.

Localization of the actin-binding protein fesselin in chicken smooth muscle.

This report compares cellular localization of fesselin in chicken smooth, skeletal and cardiac muscle tissues using affinity purified polyclonal fesselin antibodies. Western blot analyses revealed large amounts of fesselin in gizzard smooth muscle with lower amounts in skeletal and cardiac muscle. In gizzard, fesselin was detected by immunofluorescence as discrete cytoplasmic structures.

Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease.

Wilson's disease (WD) is an inherited autosomal-recessive disorder of copper metabolism characterized by a wide variety of neurological, hepatic, and psychiatric symptoms. The aim of the present study was the development and evaluation of a clinical rating scale, termed Unified Wilson's Disease Rating Scale (UWDRS), to assess the whole spectrum of clinical symptoms in WD. Altogether 107 patients (mean age 37.

Unified Wilson's Disease Rating Scale - a proposal for the neurological scoring of Wilson's disease patients.

Background And Purpose: The clinical forms of Wilson's disease (WD) neurological manifestations can be divided into three movement disorder syndromes: a) dystonic, b) ataxic, c) parkinsonian syndrome. These syndromes in WD seldom occur in isolation. Clinical rating scales such as the Unified Parkinson;s Disease Rating Scale (UPDRS), the International Cooperative Ataxia Rating Scale (ICARS) and the Rating Scale for Dystonia (RSD), focusing on either parkinsonism or ataxia or dystonia alone, are not sufficient to reflect accurately the motor impairment of WD patients.

Detection of reversible protein thiol modifications in tissues.

Oxidation/reduction reactions of protein thiol groups (PSH) have been implicated in many physiological and pathological processes. Although many new techniques for separation and identification of modified cysteinyl residues in proteins have been developed, critical assessment of reagents and sample processing often are overlooked. We carefully compared the effectiveness of N-ethylmaleimide (NEM), iodoacetamide (IAM), and iodoacetic acid (IAA) in alkylating protein thiols and found that NEM required less reagent (125 vs.

Aggregation of ALS mutant superoxide dismutase expressed in Escherichia coli.

Although large amounts of wild-type human Cu,Zn superoxide dismutase (SOD) are easily expressed in Escherichia coli, the amyotrophic lateral sclerosis-associated mutants have a strong propensity to aggregate into inclusion bodies. The alanine to valine mutation at the fourth codon (A4V) is responsible for a rapidly progressive disease course and is particularly prone to aggregation when expressed in E. coli.