HSN1 (Hereditary Sensory Neuropathy 1)
Submitted by: Ellen Burns, Medical Liaison
The year 2006 was a relatively quiet period in HSN-1 research. An article in Clinical Neurology and Neurosurgery published in 2006 describes the autopsy findings of a 93-year-old woman who developed symptoms of HSN-1 after age 64. An article in Brain examines the cases of a number of people with various neuropathies, focusing on HSN- 1 and highlighting how differently the symptoms are expressed in different individuals. Throughout 2006 and into 2007, work continued at the Day Lab on the mice that were developed to mimic the results of the genetic mutation that causes HSN-1.
In October 2005 Alexander McCampbell, then at the Day Lab for Neuromuscular Research, was the primary author of an article in Human Molecular Genetics: “Mutant SPTLC1 Dominantly Inhibits Serine Palmitoyltransferase Activity in vivo and Confers an Age-Dependent Neuropathy.” This article describes the research Alex completed in developing the mouse model for HSN-1. Genes in mice were altered, resulting in mice that over produce the enzyme (SPT) associated with HSN-1. One line of mice over produce the enzyme using the normal gene, and another line of mice over produce the enzyme with the gene that has the HSN-1 mutation.