Juvenile Batten Disease Past and Present Diagnosis

Juvenile Batten disease or Juvenile neuronal ceroid lipofuscinosis (JNCLs) inherit in autosomal recessive pattern leading to neurodegenerative disorder of onset in children between 4 to 8 years. The symptoms associated with this disease include cognitive decline, seizures, movement disorder, progressive dementia, epilepsy and retinopathy which was first described in 1903. 

This disease has estimated incidence range from 7/100,000 births worldwide and caused by genetic mutations which lead lipo fuscins to accumulate within the tissues of human body. In NCLs, nearly 400 pathogenic mutations have been reported and they are included in NCL Mutation Database. Till date, there is no established treatment available which can prevent or stop the disease pathogenesis. Nearly fourteen genes have been reported to be found associated with various types of neuronal ceroid lipofuscinosis and these genes harbor majority of mutations leading to development of batten disease phenotypes. Read more>>>>>>>>>>>>>>>>