Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis is a family of neurodegenerative disorders from accumulation of lipopigments.
There 10 known types, many linked to specific genes, several of which are named for their disease type: CLN3,5,6-8.
|Type 1||Infantile NCL (Santavuori-Haltia disease, INCL)||256730||PPT1|
|Type 2||Late Infantile NCL (Jansky-Bielschowsky disease, LINCL)||204500||TPP1|
|Type 3||Juvenile NCL (Batten disease, JNCL)||204200||CLN3|
|Type 4||Adult NCL (Kufs disease, ANCL)||204300||CLN6 DNAJC5|
|Type 5||Finnish Late Infantile (Finnish Late Infantile Variant, vLINCL)||256731||CLN5|
|Type 6||Variant Late Infantile (Late Infantile Variant, vLINCL)||601780||CLN6|
|Type 8||Northern Epilepsy, progressive epilepsy with mental retardation (EPMR)||610003||CLN8|
|Type 8||Turkish Late Infantile (Turkish Late Infantile Variant,vLINCL)||600143||CLN8|
|Type 9||Identified in Germany and Serbia.||609055||Unknown|
|Type 10||Congenital, Cathepsin D Deficiency||116840||CTSD|