This website provides information on patients with mutations in the VPS16 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the VPS16 gene is a neurological disorder characterized by manifestation of dystonia, mostly in the form of isolated dystonia (i.e., dystonia is the sole presenting clinical feature); some affected individuals may have additional neurodevelopmental comorbidity, including mild cognitive deficits and behavioural abnormalities.
Not all individuals with a mutation in the VPS16gene 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 VPS16 gene.
Michael Zech, MD, Institute of Human Genetics, Technical University of Munich, Munich, Germany, michael.zech@mri.tum.de
Manju Kurian, PhD, Great Ormond Street Hospital, London, United Kingdom, manju.kurian@ucl.ac.uk