OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

Late infantile neuronal ceroid lipofuscinosis (LINCL), also known as Jansky-Bielschowsky disease or CLN2 disease, is a rare inherited neurodegenerative disorder belonging to the neuronal ceroid lipofuscinoses (NCLs) group of lysosomal storage diseases. Note that this Orphanet entry (168491) is designated as OBSOLETE, meaning it has been retired and its content has been reorganized under more specific or updated disease classifications within the NCL spectrum (such as CLN2 disease, classical or variant forms). In its classical form, LINCL is caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1) due to mutations in the CLN2 gene. The disease primarily affects the central nervous system. Children typically develop normally until age 2–4 years, when they begin to experience seizures (often the first symptom), progressive loss of motor skills, speech regression, visual impairment leading to blindness, cognitive decline, and eventually severe disability. The accumulation of autofluorescent lipopigment (ceroid lipofuscin) in neurons and other cells leads to progressive neuronal death. Historically, treatment was limited to supportive and palliative care. However, cerliponase alfa (Brineura), an enzyme replacement therapy delivered directly into the brain via intracerebroventricular infusion, was approved for CLN2 disease and has been shown to slow the progression of motor and language decline. Patients with suspected NCL should be referred to specialized centers for genetic confirmation and multidisciplinary management. For current clinical information, patients and families should refer to the updated Orphanet entries for CLN2 disease.

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