CLN10 disease

CLN10 disease, also known as congenital neuronal ceroid lipofuscinosis (NCL) or cathepsin D-deficient neuronal ceroid lipofuscinosis, is an extremely rare and severe lysosomal storage disorder caused by mutations in the CTSD gene, which encodes the enzyme cathepsin D. It belongs to the group of neuronal ceroid lipofuscinoses (NCLs), a family of neurodegenerative conditions characterized by the accumulation of autofluorescent lipopigment (ceroid and lipofuscin) in neurons and other cell types. CLN10 disease primarily affects the central nervous system but can also impact other organs. The most severe form presents at birth (congenital form) with microcephaly, respiratory insufficiency, seizures beginning in the neonatal period, and a rigid or spastic posture. Affected neonates may exhibit apnea, status epilepticus, and a lack of neurological development. Brain imaging typically reveals severe cerebral and cerebellar atrophy. The congenital form is usually fatal within hours to weeks after birth. Later-onset forms of CLN10 disease have also been described, presenting in late infancy or childhood with progressive neurodegeneration, visual loss, seizures, motor decline, and cognitive regression, following a course more similar to other NCL subtypes. There is currently no cure or disease-modifying treatment for CLN10 disease. Management is entirely supportive and symptomatic, focusing on seizure control with antiepileptic medications, respiratory support, nutritional management, and palliative care. Research into enzyme replacement therapy and gene therapy for NCLs is ongoing, but no specific approved therapies exist for CLN10 disease at this time.

Common questions about CLN10 disease