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Neuronal ceroid lipofuscinosis

From SNPedia

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 Name OMIM Gene
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 7 CLN7 610951 CLN7
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