This website provides information on patients with mutations in the EIF1AK1 gene, including clinical data, molecular data, management and research options.

An autosomal dominant mutation in the EIF2AK1 gene, located on chromosome 7p22, was found to cause Leukoencephalopathy, Motor delay, Spasticity, and Dysarthria syndrome (LEMSPAD, MIM#618878). This syndrome is characterized by developmental delay, progressive lower extremity spasticity that manifest mainly as delayed walking with an abnormal spastic gait and toe-walking. So far, a single 6 year old female has been reported with LEMSPAD syndrome. Additional clinical features include hypertonia, dysarthria, anxiety, and attention deficit hyperactivity disorder (ADHD).

This website was created to share and collect information about clinical presentation, management, and ongoing research projects to gather more knowledge and provide better treatment of patients with mutations in the EIF2AK1 gene.

Hsiao-Tuan Chao, MD, PhD, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital; Department of Molecular and Human Genetics, BCM, Houston, Texas, USA, hsiaotuan.chao@bcm.edu

Joshi Stephen, PhD, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, USA, joshi.stephen@bcm.edu

Vanesa Lerma, Research Coordinator III, Department of Pediatrics, Baylor College of Medicine (BCM); Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, USA, Chao-lab@bcm.edu