There soon could be a breakthrough on testing for amyotrophic lateral sclerosis, better known as ALS. Researchers say a muscle biopsy test could lead to an earlier diagnosis of the deadly disease.
Hiroshima University scientists conducted a study of 10 people who had ALS at the time of their death and 12 who did not. Researchers say that all of the ALS patients had TDP-43 accumulations in their intramuscular nerve bundles, while those without ALS did not.
“TDP-43 is a protein that plays a key role on motor neurons, and accumulation of TDP-43 may be a biomarker for early diagnosis of ALS,” says researcher Hirofumi Maruyama, a professor at the Graduate School of Biomedical and Health sciences at Hiroshima, in a statement.
Researchers then studied 114 patients who underwent a muscle biopsy and did not have a family history of ALS. Of those 114 patients, 71 had evidence of intramuscular nerve bundles and 43 did not. Among the 71, 33 had axonal TDP-43 accumulations in their nerve bundles and were all later diagnosed with ALS. Of the 43 patients without nerve bundles, three were later diagnosed with the disease.