Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 10
Definition
A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Also known as ceroid lipofuscinosis, neuronal, type 10, CLN10, CLN10-NCL, CTSD neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis caused by mutation in CTSD, neuronal ceroid lipofuscinosis due to cathepsin D deficiency, neuronal ceroid lipofuscinosis type 10 — per MONDO