Doxycycline in early CJD: a double-blinded randomised phase II and observational study.

Objectives: The main objective of the present study is to study the therapeutic efficiency of doxycycline in a double-blinded randomised phase II study in a cohort of patients with sporadic Creutzfeldt-Jakob disease (sCJD).

Methods: From the National Reference Center of TSE Surveillance in Germany, patients with probable or definite sCJD were recruited for a double-blinded randomised study with oral doxycycline (EudraCT 2006-003934-14). In addition, we analysed the data from patients with CJD who received compassionate treatment with doxycycline in a separate group.

Intensity of human prion disease surveillance predicts observed disease incidence.

Background: Prospective national screening and surveillance programmes serve a range of public health functions. Objectively determining their adequacy and impact on disease may be problematic for rare disorders. We undertook to assess whether objective measures of disease surveillance intensity could be developed for the rare disorder sporadic Creutzfeldt-Jakob disease (CJD) and whether such measures correlate with disease incidence.

Update on treatment of inclusion body myositis.

Degenerative mechanisms such as protein accumulation and vacuolar transformation in the skeletal muscle distinguish inclusion body myositis (IBM) from other inflammatory myopathies. IBM is particularly common in patients over the age of 50 years and inevitably leads to progressive muscle weakness and atrophy. Conventional immunotherapies, albeit effective in other forms of myositis, seem to have only a transient or no beneficial effect on disease progression of IBM.

Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene.

Magnetic resonance imaging (MRI), with diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR), is a useful diagnostic investigation for Creutzfeldt-Jakob disease (CJD). Amendment of the diagnostic criteria for sporadic CJD (sCJD) to include defined MRI alterations has just recently been proposed. We analyzed MRI scans with FLAIR and/or DWI available of 29 patients with the E200K or the V210I mutation, and a control group of 29 sCJD patients to compare the MRI lesion profile and evaluate the applicability of new MRI criteria to genetic CJD patients.

Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings.

Ten percent to 15% of all human transmissible spongiform encephalopathy are characterized by a mutation in prion protein gene (PRNP). They are distinct with respect to clinical signs, disease onset, disease duration, and diagnostic findings. During our surveillance activities in Germany, we identified 7 patients with the rare mutation E196K in PRNP gene, thereof 4 patients belonging to 2 families.