Welcome
This website provides information on patients with mutations in the ACER3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ACER3 gene is a multisystem disorder characterized by progressive leukodystrophy in early childhood, manifesting by neurological regression, truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Not all individuals with a mutation in the ACER3 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 ACER3 gene.
Cungui Mao, PhD, The State University of New York (SUNY) at Stony Brook, New York, USA, Cungui.Mao@stonybrook.edu