spinal and bulbar muscular atrophy (SBMA) develops before symptoms appear, a Japanese study reports.
The research on the waste product, creatinine, appeared in the journal Neurology. The title of the article is “Biomarker-based analysis of preclinical progression in spinal and bulbar muscular atrophy.”
Scientists have been trying to find biomarkers that can spot neurodegenerative disorders before symptoms appear. The work has led to promising biomarkers for Alzheimer’s and Huntington’s disease.
But little research has been done on biological changes over time that occur before neurodegenerative disease symptoms show up. SBMA is a neurodegenerative disease caused by a mutation of the androgen receptor gene.
The Japanese researchers had previously reported a link between levels of the creatinine that kidneys secrete to the blood and the severity of movement problems once SBMA symptoms appear. But the team had not looked at how creatinine levels change before symptoms show up.
They wondered if tracking changes in biochemical levels and body measurements before SBMA symptoms appeared could shed light on how it develops. They focused on changes before and after the start of patients’ muscle weakness.
The team used statistical methods to predict changes in disease markers. Then they compared the forecasts with changes in healthy men and in ALS and Parkinson’s patients. In addition, they analyzed the link between patients’ creatinine blood levels and the start of their symptoms.
Their study between October 2014 and October 2017 involved 40 men with SBMA, 25 with ALS, 20 with Parkinson’s, and 48 healthy controls. The SBMA patients, whose bulbar and limb muscles had weakened, were followed for a mean of 17.3 years, including 11.4 years before symptoms appeared. …”
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