Skip to main content

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-α-hydroxylase. The consequent accumulation of hydroxycholesterols in plasma seems to be pathognomonic for SPG5, and represent a possible target for treatment. We aimed to characterize Norwegian patients with SPG5, including clinical examinations, genetic analyses, measurements of hydroxycholesterols, electrophysiological investigations and brain imaging.

from Journal of the Neurological Sciences https://ift.tt/2HB5pxy
Labels:

Comments

Post a Comment

Popular posts from this blog

Menopause Symptoms Reduced by Cold Water Swimming

Cold water swimming significantly eases menopausal symptoms. Surveying 1114 women, with 785 experiencing menopause, researchers found improvements in anxiety, mood swings, low mood, and hot flushes among participants. from Neuroscience News https://ift.tt/9AqHsEa
Post a Comment
Read more

Balancing Act: The Mixed Blessings of Solitude on Mental Health

A new study examines the nuanced impact of solitude on mental health among adults aged 35 and older in the UK and US. Tracking 178 participants over 21 days, the research found no definitive optimal balance between solitude and social interaction. from Neuroscience News https://ift.tt/oD5jKd8
Post a Comment
Read more

Handwriting Boosts Brain Connectivity and Learning

Handwriting, compared to typing, results in more complex brain connectivity patterns, enhancing learning and memory. This study used EEG data from 36 students to compare brain activity while writing by hand and typing. from Neuroscience News https://ift.tt/0bklQBj
Post a Comment
Read more