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 EARS2 gene.
The leukoencephalopathy-thalamus and brainstem involvement with high lactate (LTBL) syndrome caused by mutations in the EARS2 gene is a multisystem disorder characterized by extensive symmetrical deep white matter abnormalities and signal changes in the thalami and brainstem along with lactic acidosis. Not all individuals with a mutation in the EARS2 gene have these features.
This website provides information on patients with mutations in the EARS2 gene, including clinical data, molecular data, management and research options.
Sofia Barbosa-Gouveia, PhD, Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain, email@example.com
Álvaro Hermida Ameijeiras, MD, PhD, Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain, firstname.lastname@example.org