Autosomal dominant primary lateral sclerosis

Abstract

Diseases predominantly affecting the upper motor neuron include primary lateral sclerosis (PLS) and the hereditary spastic parapareses. PLS is a disorder characterized by spinal and bulbar spasticity due to degeneration of the upper motor neuron. We describe here a French Canadian family with progressive involvement of the upper motor neuron that closely mimics the features of PLS. Subjects were referred to the study protocol by their treating physician. Prior to their participation in the study, they signed a consent form approved by the local ethics review board. At least two neurologists performed a thorough neurologic examination on all affected and unaffected family members. Additionally, electrophysiologic studies were performed on most patients by the same electrophysiologist and were validated by a second electrophysiologist. For genetic studies, blood samples were collected from 18 individuals, including 8 affected members in two generations of the family. All eight living affected individuals were available for detailed clinical assessment, while four deceased individuals were considered affected based on reliable history obtained from their children. The …