Huntington-Erkrankung

Fallbericht: Moya-Moya-Erkrankung

Moyamoya Disease – Case Report. Moyamoya disease is a more common disease in Asian population and well discussed since 1957. Because of the continuously increasing population of people with migration background, this disease is getting a topical subject in European countries. Characterized by occlusion of the distal carotid arteries, it is a progressive disease with a fragile network of basal c...

Von-Willebrand-Erkrankung und Weibel-Palade-Körperchen

Von Willebrand factor (VWF) is a pivotal haemostatic protein mediating platelet adhesion to injured endothelium and carrying coagulation factor VIII (FVIII) in the circulation to protect it from premature clearance. Apart from the roles in haemostasis, VWF drives the formation of the endothelial cell specific Weibel-Palade bodies (WPBs), which serve as a regulated storage of VWF and other throm...

Amyotrophe Lateralsklerose: Überlegungen zu Ursprung und Pathophysiologie der Erkrankung

Milestones in huntington disease.

There have been extraordinary advances in our knowledge of the underlying gene, the protein it encodes, various models of disease, and potential targets for effective therapies for Huntington disease. Huntington disease research has increased exponentially in the past 25 years, and we now understand many of the molecular mechanisms underlying the disease. Still, more work needs to be done befor...

Case 24. Huntington Disease

● Huntington disease (HD) is a progressive neurological disorder that typically has its onset in the early 40s. ● HD is an autosomal dominant disorder. Genetic testing can determine whether a person has inherited HD prior to the onset of symptoms. ● Because of the lack of treatment for HD, the decision of an asymptomatic at-risk individual to undergo genetic testing is a personal one, based on ...