This website provides information on patients with mutations in the AIMP2 gene, including clinical data, molecular data, management and research options.
AIMP2-related hypomyelinating leukodystrophy is characterised by progressive neurological involvement including microcephaly, intractable seizures, intellectual disability, and spastic quadriparesis. MRI Brain shows features suggestive of hypomyelination initially followed by cerebral and cerebellar atrophy. Biallelic loss of function variants in AIMP2 are implicated.
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 AIMP2 gene.
Neerja Gupta, MD, DM, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India, firstname.lastname@example.org
Anju Shukla, MD, DM, Department of Medical Genetics, Kasturba Medical College and Hospital, Manipal, India, email@example.com
Kiranam Chatti, PhD, Dr. Reddy’s Institute of Life Sciences, Hyderabad, India, firstname.lastname@example.org