Posted on | CategoriesNeurology / School of Medicine | PI: Stefan M. Pulst, MD

Identification of GGC Expansion as a Basis for SCA4 Movement Disorder

Spinocerebellar ataxia type 4 (SCA4) is a rare movement disorder whose symptoms begin in adolescence or adulthood, usually with difficulty walking and balancing. Affected individuals may go on to experience muscle weakness, lose sensation in their hands and feet, and lose their reflexes... Continue reading → Identification of GGC Expansion as a Basis for SCA4 Movement Disorder
Posted on | CategoriesHealth and Disease / Neurology | PI: Stefan M. Pulst, MD & Daniel R. Scoles, PhD

Therapy for ALS

Amyotrophic lateral sclerosis (ALS) is a catastrophic degeneration of the nervous system with great need for disease-modifying treatments. Stefan Pulst, MD, and his collaborator Daniel Scoles, PhD, were studying a lesser-known but similarly dire condition (spinocerebellar ataxia 2, SCA2) when they identified a gene relevant to both diseases. Continue reading → Therapy for ALS

Research Statement

The mission of our laboratory is the development of therapeutics for inherited diseases of the nervous system with an emphasis on spinocerebellar ataxias, amyotrophic lateral sclerosis (ALS), and Parkinson’s disease. Our work on SCA2 represents an effort funded more than two decades by the NINDS.  It began when Dr. Pulst and a colleague Dr. Sid Starkman visited a large SCA2 family in Syracuse NY in the early 1990’s. Later with other groups the SCA2 gene was mapped to Chr. 12, and Drs. Pulst and Starkman demonstrated anticipation in the original family suggesting that the causative gene mutation was likely a repeat expansion (Pulst et al., 1993).  The gene discovery was published shortly thereafter (Pulst et al., 1996).  The discovery demonstrated that ATXN2 had an expanded CAG repeat encoding a polyglutamine, and that ATXN2 is a highly evolutionarily conserved gene. At the time, the only hint on the function of ATXN2 was that it had RNA binding domains. Subsequent work to characterize ATXN2 followed two directions of investigation, discovery of ATXN2 interacting proteins, and the production and characterization of SCA2 mouse models.  Chronologically there was much overlap in these efforts.

Pulst Lab