Publications by authors named "A Rolfs"
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in , with disease severity influenced by the number of copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case series illustrating the variable clinical presentations and diagnostic complexities of spinal muscular atrophy (SMA).
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- Pathogenic variants in the LRRK2 gene significantly contribute to Parkinson's disease, but not everyone with these variants develops the disease, suggesting lifestyle and environmental factors play a role.
- A study analyzed household dust samples from different groups, including patients with and without PD and a healthy control group, identifying over 1,000 chemicals and 163 types of microorganisms, with some shown to be statistically significant in relation to PD.
- Notably, hazardous chemicals like Bisphenol S were linked to negative effects on mitochondrial function in nerve cells from PD patients, highlighting the potential impact of environmental exposures on Parkinson's disease development.
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- Hereditary transthyretin-related amyloidosis (hATTR amyloidosis) is a genetic disease caused by mutations in the transthyretin gene, impacting patients in diverse ways; this study examines the demographics, clinical features, and genetic variants of suspected hATTR cases among 3,167 participants.
- The research identified five key clinical phenotypes linked to 22 symptoms, with a focus on polyneuropathy and cardiomyopathy; it also determined gender differences in symptom presentation.
- Of the participants, 92 were diagnosed with hATTR (3%) having 17 unique genetic variants, predominantly the p.Val50Met variant; in contrast, 503 participants had wild-type
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- Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
- The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
- Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
Background: Niemann-Pick disease type C1 (NPC1, MIM 257220) is a heritable lysosomal storage disease characterized by a progressive neurological degeneration that causes disability and premature death. A murine model of displays a rapidly progressing form of Npc1 disease, which is characterized by weight loss, ataxia, and increased cholesterol storage. mice receiving a combined therapy (COMBI) of miglustat (MIGLU), the neurosteroid allopregnanolone (ALLO) and the cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPßCD) showed prevention of Purkinje cell loss, improved motor function and reduced intracellular lipid storage.
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