This website provides information on patients with mutations in the SLC16A2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SLC16A2 gene is a multisystem disorder characterized by neurodevelopmental delay, axial hypotonia, limbs spasticity, movement disorders (dystonia, hypokinesia, paroxysmal movement disorders), epileptic seizures, signs of peripheral thyrotoxicosis with global hypotrophy. Brain MRI usually shows severe myelination delay which can be misdiagnosed as hypomyelination.
Not all individuals with a mutation in the SLC16A2 gene have all typical 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 SLC16A2 gene.
Davide Tonduti, MD, PhD, Unit of Pediatric Neurology, C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Department of Biomedical and Clinical Sciences, L. Sacco University Hospital, Università degli Studi di Milano, Milano, Italy, davide.tonduti@unimi.it
Catherine Sarret, MD, PhD, Department of pediatrics and medical genetics, hôpital Estaing, Centre hospitalier universitaire de Clermont-Ferrand, Clermont-Ferrand, France, csarret@chu-clermontferrand.fr
Isabelle Oliver Petit, MD, Endocrinology unit, Children’ Hospital, Academic hospital, Toulouse, France, oliver.i@chu-toulouse.fr