Publications by authors named "R E Tanel"
Article Synopsis
- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.
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- In a study involving 27 ALS patients with an SOD1 mutation, tofersen treatment was analyzed over a median of 84 weeks, revealing changes in clinical measures compared to the year before therapy.
- Results showed significant improvements in two clinical progression rates, with 9 out of 17 patients either stabilizing or slightly improving during treatment, while 4 patients declined.
- Additionally, neurofilament light chain levels decreased significantly in most patients, indicating potential disease-modifying effects of tofersen for SOD1-ALS.
Article Synopsis
- CIED remote monitoring (RM) is crucial for ongoing care in pediatric and adult congenital heart disease patients, and this study aimed to assess baseline RM data before launching a quality improvement project.
- Data from 22 pediatric centers in the US and Australia indicated that most centers had a non-physician managing the RM program, with over 68% reporting more than 80% of patients enrolled in RM.
- Compliance with remote monitoring showed variability by device type, with overall results indicating sub-optimal adherence; the PACES-sponsored initiative aims to improve this through support and resources for participating centers.
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease, still incurable. The disease is highly heterogenous both genetically and phenotypically. Therefore, developing efficacious treatments is challenging in many aspects because it is difficult to predict the rate of disease progression and stratify the patients to minimize statistical variability in clinical studies.
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