This website provides information on patients with mutations in the HACE1 gene, including clinical data, molecular data, management and research options.

As a tumour suppressor gene, the HACE1 gene is associated with cancer progression. Additionally, germline mutations in the HACE1 gene result in a multisystem disorder known as Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS). This syndrome results in brain atrophy, intellectual disability, and impaired motor function including dystonia and ataxia. Other possible symptoms include seizures, skeletal and limb deformities, short stature, and microcephaly. Symptoms are variable, and not all symptoms may be present in all affected individuals. Mutations and changes in expression of HACE1 have also been linked to neurodegenerative diseases such as Parkinson’s and Alzheimer’s disease.

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 HACE1 gene.

Josef M. Penninger, MD, PhD, Helmholtz Centre for Infection Research, Braunschweig, Germany, josef.penninger@helmholtz-hzi.de
Hannah K. Mayr, BSc Hons, Research Assistent, Medical University of Vienna, Vienna, Austria, hannah.mayr@meduniwien.ac.at