Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. Excessive accumulation of manganese in these patients results in rapidly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imaging appearances and neurodegenerative features on post-mortem examination.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in WDR45, a new causative gene for neurodegeneration with brain iron accumulation located on the X chromosome.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype.

[Value of ultrasound tomography in the diagnosis and follow-up of fatty liver].

In a prospective study 187 patients with diffuse fatty infiltration of the liver, estimated by ultrasound tomography, were investigated. In any case the history as well as the results of clinical investigation and the lab findings were known to the observer. Liver blind punctions were performed after a short time, on an average of 11 days.

[T cell subpopulations in peripheral blood and liver tissue in acute HBsAg-negative hepatitis].

By means of monoclonal antibodies against surface antigens of mononuclear cells we examined alterations of T-cell-subpopulations of peripheral blood and liver tissue in the course of acute HBsAg-negative hepatitis. Used methods for determination were the immunofluorescence for blood lymphocytes, respectively the peroxidase-anti-peroxidase-(PAP)-technique for round-cell-infiltrates of the liver based on paraffin fixed sections. The focus of attention was the relation of T4-(helper/inducer) to T8-(suppressor/cytotoxic) cells, the so-called immuno-regulatory quotient.