Publications by authors named "K Nakamagoe"
Article Synopsis
- The study investigates two cases of extremely low HDL cholesterol levels linked to mutations in the ABCA1 gene, which is important for cholesterol transport, particularly in Tangier disease.
- In the first case, a 20-year-old woman with multiple health issues showed mutations leading to decreased cholesterol efflux and ABCA1 protein levels, while also having another condition called Krabbe disease.
- The second case involved a 51-year-old woman with similar low HDL levels and different mutations confirming Tangier disease, highlighting the complexity of mutations and their pathogenic mechanisms.
Article Synopsis
- - The study investigated the relationship between cerebrospinal fluid orexin-A (CSF-OX) levels and conditions like cataplexy and diencephalic syndrome in NMOSD patients, finding significant correlations with hypersomnia and MRI findings.
- - Researchers analyzed data from 50 patients with hypersomnia and 68 controls, discovering that those with hypersomnia were more likely to have NMOSD and related conditions, along with lower CSF-OX levels.
- - Key risk factors for low-to-intermediate CSF-OX levels included hypersomnolence and a high MRI hypothalamus-to-caudate-nucleus intensity ratio, which was associated with a higher occurrence of diencephalic syndrome.