Adult neuronal ceroid lipofuscinosis

rare

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.

Identifiers: MONDO:0019260 Orphanet:79262
Part of: Cerebral lipidosis with dementia Neuronal ceroid lipofuscinosis
Also known as: adult NCL · ANCL · CLN4 disease, adult autosomal dominant · Kuf's disease · Kufs disease

Subtypes

All diseases Rare only

Disease	ID	Genes
Adult neuronal ceroid lipofuscinosis 1	MONDO:0979342
Adult neuronal ceroid lipofuscinosis 5	MONDO:0979350
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	MONDO:0008083	DNAJC5
Neuronal ceroid lipofuscinosis 11	MONDO:0013866	GRN
Neuronal ceroid lipofuscinosis 13	MONDO:0014147	CTSF

Rare disease

Projects

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