Grant: Operating Grant - Priority Announcement: Neuromuscular Research

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a severe and progressive hereditary disease that affects the brain and spinal cord. The main features of the disease include malformation of the bridge connecting the two halves of the brain, progressive nerve and muscle wasting, and mental retardation. Symptoms of HMSN/ACC appear within the first year of life; by the time patients are adolescents all muscle movements are severely impaired and most patients are confined to wheel chairs or bedridden. The average life expectancy is 30 years; patients commonly die of complications related to respiratory problems. There is no specific treatment for HMSN/ACC. The disease is particularly common in the Northeastern part of the province of Quebec, where 1/2000 infants are born with the disease. Because HMSN/ACC is a genetic disease (it runs in families), it must be caused by a problem within a gene. We have identified the gene responsible for this disease and we will now determine how the malfunctioning of this gene leads to the disorder. With this added knowledge we should be able to develop much needed treatments and management strategies, which will improve the quality of life and life expectancy of HMSN/ACC patients. It may also shed some light on how the brain develops and functions.