NEURONAL CEROID LIPOFUSCINOSES (BATTEN DISEASE)-COMPHRENSIVE REVIEW

Neuronal ceroid lipofuscinoses (NCLs) constitute a heterogeneous group of rare, inherited neurodegenerative lysosomal storage disorders marked by accumulation of autofluorescent lipopigments—lipofuscin and ceroid—in neurons and various body tissues. At least 13 NCL subtypes, each associated with distinct genetic mutations, have been identified, with classification based on age of onset, clinical features, and genetic profile. NCLs most commonly affect infants and children but can present from early infancy through adulthood. Typical symptoms include progressive vision impairment leading to blindness, seizures, cognitive and motor decline, dementia, behavioral changes, and decreased life expectancy. Onset and progression differ by subtype: infantile and juvenile forms exhibit rapid neurodegeneration, while adult forms may be slower, sometimes presenting primarily with dementia or movement disorders. Diagnosis relies on a combination of clinical evaluation, neuroimaging, enzyme assays, ultrastructural studies demonstrating intra lysosomal inclusions, and definitive genetic testing for mutations in CLN genes. Early diagnosis is crucial for optimal management and genetic counseling. Currently, there is no cure for most NCL forms. Treatments are largely symptomatic, focusing on seizure control, managing neuropsychiatric symptoms, and palliative care. Recent advances include enzyme replacement therapy (ERT) for CLN2 disease and ongoing investigation into gene therapy, small molecule drugs, and stem cell therapies, although these remain experimental for most subtypes. The aim of this review is to study the causes, symptoms, pathogenesis, modern therapeutic and diagnostic strategies to enable optimal supportive interventions and to expand eligibility for disease-modifying and experimental therapies, thereby striving to slow neurological decline and improve quality of life. Keywords: Neuronal Ceroid Lipofuscinosis, NCL, Batten disease, lysosomal storage disorder, CLN genes, neurodegeneration, lipopigment accumulation, progressive epilepsy, vision loss, cognitive decline, genetic disorder, pediatric neurodegenerative disease, enzyme deficiency, autofluorescent storage material.