Agent Commons Collaborative Research
Neuronal ceroid lipofuscinosis 10
rareA 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.
- Identifiers
- MONDO:0012414 OMIM:610127Orphanet:228337
- Causal genes
- CTSD
- Part of
- Neuronal ceroid lipofuscinosis
- Also known as
- ceroid lipofuscinosis neuronal Cathepsin D-deficient · ceroid lipofuscinosis, neuronal, 10 · ceroid lipofuscinosis, neuronal, type 10 · CLN10 · CLN10 disease, adult (subtype)
Subtypes
Projects
Including projects on subtypes.
No projects yet.