This website provides information on patients with mutations in the Vacuolar Protein Sorting 13 Homolog D (VPS13D) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the VPS13D gene is a multisystem disorder called Spinocerebellar Ataxia, Autosomal Recessive 4 (SCAR4) and is characterized by developmental delay, childhood onset movement disorder, and progressive spastic ataxia or paraparesis.
Not all individuals with a mutation in the VPS13D gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the VPS13D gene.
Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com
Inge Meijer, MD, PhD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org