Batten disease is the common name for a group of lysosomal storage disorders called neuronal ceroid lipofuscinoses. There are 14 forms of the disease, and they primarily affect the eyes and the central nervous system. The diseases can be classified into four groups: infantile, late-infantile, juvenile, and adult-onset forms. Patients commonly present progressive cognitive and visual impairments, epileptic seizures, and deterioration of motor skills and balance issues.
1. A lysosome is a cell organelle that plays a crucial role in the breakdown and recycling of endogenous and internalized molecules, nutrient sensing, calcium, and bio-metal homeostasis. Specifically, in neurons, it is responsible for cell growth, axonal transport, and synaptic homeostasis.
Lysosomes have a wide variety of enzyme systems that carry out the processes involved in the functions of the organelle.
2. The causative genetic mutations lead to functional defects in or deficiency of proteins involved in the functioning of the endolysosomal system.
3. These proteins can be soluble lysosomal or cytosolic enzymes or insoluble transmembrane proteins.
4. The phenotype resulting from these defects is the pathognomonic accumulation of a yellow-brown autofluorescent pigment called ceroid lipofuscin that leads to dysregulated autophagy, progressive glial activation, and neuronal cell death within the nervous system.
Vision loss,Seizures,Delay and eventual loss of skills previously acquired,Dementia,Abnormal movements
Lysosomal storage disorder
Cerliponase alfa for CLN2,Antiseizure drugs,Muscle relaxants,Antidepressants, and levodopa for symptoms