London: New research suggests differences in how Alzheimer’s disease progresses between men and women, potentially opening avenues for future study and treatment.
Alzheimer’s disease is characterized by abnormal levels of the tau protein in the brain, disrupting communication between brain cells and leading to cognitive decline.
Some patients also exhibit abnormal protein clumps associated with Parkinson’s disease, known as alpha-synuclein.
Researchers at the Mayo Clinic reported in JAMA Network Open that women with Alzheimer’s disease and higher levels of both these proteins experienced brain changes at a rate 20 times faster than men, suggesting alpha-synuclein may accelerate dementia progression in women.
“When we see changes related to the disease unfolding at vastly different rates, we can no longer continue to treat Alzheimer’s as if it presents identically in everyone,” said Dr. Kejal Kantarsi, the lead author of the study.
The study involved 415 volunteers with Alzheimer’s disease who agreed to track changes in their brains over time through testing of cerebrospinal fluid to detect abnormal alpha-synuclein and imaging to measure tau accumulation.
Approximately 17% of participants showed evidence of abnormal alpha-synuclein.
“Identifying these sex-specific differences can help us design more targeted clinical trials and, more personalized treatment strategies,” Kantarsi said.
Study leader Dr. Elijah Mack stated, “This opens up a completely new direction for understanding why women bear a disproportionate burden of dementia.”
“If we can uncover the mechanisms behind this vulnerability, we may discover targets we hadn’t previously considered.”
An improved treatment for a rare childhood epilepsy is showing promising results
An experimental disease-modifying drug developed by Stoke Therapeutics and Biogen has helped reduce seizures and improve quality of life for children and adolescents with Dravet syndrome, a rare but devastating genetic epilepsy, in early and mid-stage trials.
Researchers reported in the New England Journal of Medicine that children taking zurvonersen regularly for up to three years experienced a 91% reduction in seizure frequency, decreasing from an average of 17 seizures per month to between 1.5 and 7, depending on the tested dosage regimen.
81 patients aged 2 to 18 received zorevunersen, ranging from 10 mg to 70 mg, via direct injection into the cerebrospinal fluid over six months, either as a single dose or with follow-up doses every two to three months.
75 of the 81 participants continued to receive the drug every four months in a Phase 2 trial.
Researchers found zorefunersen was generally well-tolerated, with most side effects being mild to moderate.
Dravet syndrome is notoriously difficult to treat, affecting approximately 1 in 15,000 children.
In cases of Dravet syndrome, patients have a copy of the SCN1A gene that doesn’t produce enough protein to maintain normal nerve cell function, leading to developmental delays, coordination and feeding difficulties, severe seizures and premature death.
Zorefunersen works by increasing the production of healthy protein from the patients’ gene.
A larger trial of the drug is currently underway.
Study lead, Professor Helen Cross of University College London, stated, “I frequently see patients with genetic epilepsies that are remarkably hard to treat, and the impact goes beyond just the seizures – treatment options are very limited.”
The mother of 8-year-old Freddie, who participated in the trial, said in a statement that it “completely transformed our lives.”
“We now live a life we never thought possible, and most importantly, it’s a life Freddie can enjoy.”
（Nancy Lapid reporting; Shavonna Allen-Morris contributed reporting; Bill Berkrot editing）
