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  • MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (MLC1) HOT SPOT MUTATION (VAN DER KNAAP MUTATION AND NALBAND MUTATION)

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (MLC1) HOT SPOT MUTATION (VAN DER KNAAP MUTATION AND NALBAND MUTATION)

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by macrocephaly, diffuse and swollen cerebral hemispheric white matter, progressive motor dysfunction, spasticity, recurrent episodes of ataxia often with or without mental retardation and epileptic seizures. Onset of the MLC disease may be neonatal, childhood or very rarely in adulthood. The characteristic megalencephaly, also known as macrocephaly, develops at early neonatal period, is seen to increase with age and attain a constant cranial circumference by early childhood.MLC is also known as the Van der Knaap disease. Van der Knaap described the MLC1 pathogenic variant, c.278C>T, p.Ser93Leu, which has been identified in individuals from Japan, Finland, Turkey, Italy and India. In India, major cases have been reported from Bansal-Agarwal community in Agra and some cases from non-Agarwal communities. Accurate clinical diagnosis in most cases are difficult due to overlapping clinical manifestations with other leukodystrophies. The accurate diagnosis of the type of leukodystrophy is pivotal for the clinical management of the disease. A putative founder frameshift deletion, c.736delA, mutation in MLC1 was identified in the Nalband community from Agra and has a wide prevalence in the community

  • Test Type:
  • Pre-test Information:
    It is mandatory to send a Signed Genomics Clinical information form (Form 20) with the specimen.
  • Report Delivery:
    Sample by Mon 11 am; report Friday
  • Components:
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