Mayo Clinic researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago. The researchers say their study — appearing in Nature Genetics — has revealed a new neural pathway that may help understand a variety of similar conditions.
“We were able to do this now because of Next Generation genomic sequencing technology,” says Christopher Klein, M.D., Mayo Clinic neurologist and lead author of the study. “We also had the invaluable help of our international collaborators who helped identify additional extended families with this condition, making the extensive genetic data available to us.
Called hereditary sensory and autonomic neuropathy type 1 (HSAN1) with dementia and hearing loss, its symptoms begin to appear in the young adult years — 20 to 35 — after which an individual’s cognitive ability, hearing and ability to sense limbs deteriorate slowly. There is no treatment or cure. It was first identified and described by Peter Dyck, M.D., a senior Mayo neurologist and co-author of this current paper.
Below is a youtube video with Dr. Klein discussing the study.