Publications by authors named "J Norden"
gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
Amyotroph Lateral Scler Frontotemporal Degener
September 2024
Article Synopsis
- A study was conducted at 11 ALS centers in Germany from October 2021 to February 2024 to evaluate the frequency of pathogenic gene variants in ALS patients and their transition to an expanded access program for tofersen treatment.
- Out of 1935 patients screened, 48.8% chose to be informed about genetic variants related to tofersen, revealing that 1.8% had (likely) pathogenic variants, 0.9% had other pathogenic variants, and 7.0% showed hexanucleotide repeat expansion.
- The transition to tofersen treatment from genetic testing averaged 94 days, with a notable 74.0% of patients with certain variants opting for the therapy, highlighting the importance of comprehensive
Objective: Robotic arms are innovative assistive devices for ALS patients with progressive motor deficits of arms and hands. The objective was to explore the patients´ expectations towards a robotic arm system and to assess the actual experiences after the provision of the device.
Methods: A prospective observational study was conducted at 9 ALS centers in Germany.
Article Synopsis
- This multicenter study evaluated tofersen treatment for patients with SOD1-ALS, focusing on clinical outcomes and patient-reported outcomes (PRO) after at least 6 months of treatment.
- Results showed a 25% reduction in ALS progression rate, stable lung capacity, and a significant decrease in serum neurofilament light chain levels, indicating a positive response to the drug.
- Patients reported high satisfaction with tofersen treatment, showing improved symptom severity and a strong willingness to recommend the drug to others.
Fungi are among the most diverse and ecologically important kingdoms in life. However, the distributional ranges of fungi remain largely unknown as do the ecological mechanisms that shape their distributions. To provide an integrated view of the spatial and seasonal dynamics of fungi, we implemented a globally distributed standardized aerial sampling of fungal spores.
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- The study aimed to evaluate the relationship between serum neurofilament light chain (sNfL) levels and different clinical forms of amyotrophic lateral sclerosis (ALS) in nearly 3000 patients across Germany and Austria.
- Results indicated that sNfL levels varied significantly across ALS phenotypes, with higher levels associated with faster disease progression and bulbar onset, while primary lateral sclerosis (PLS) and some other phenotypes showed lower levels.
- The findings suggest that understanding these phenotypes is crucial for interpreting sNfL results and could influence clinical trials and practice in ALS management.