Table 3. The neuronal ceroid lipofuscinoses, associated genes, phenotypes, and encoded protein.

Gene	Disease/phenotype	Alternative name	Encoded protein
CLN1/PPT1	CLN1 disease, infantile	Infantile	Palmitoyl protein thioesterase 1, PPT1
	CLN1 disease, late infantile
	CLN1 disease, juvenile
	CLN1 disease, adult
CLN2/TPP1	CLN2 disease, late infantile	Late-Infantile	Tripeptidyl peptidase 1, TPP1
	CLN2 disease, juvenile
CLN3	CLN3 disease	Juvenile	CLN3 transmembrane protein/Battenin
CLN4/DNAJC5	CLN4 disease	Adult autosomal dominant Batten	Cysteine string protein α
		Kuf’s disease
		Ceroid Lipofuscinosis Parry type
CLN5	CLN5 disease, late infantile	Finnish variant late‐infantile	Ceroid-lipofuscinosis neuronal protein 5
	CLN5 disease, juvenile
	CLN5 disease, adult
CLN6	CLN6 disease, late infantile	Early juvenile variant or l ate infantile variant	Ceroid-lipofuscinosis neuronal protein 6
	CLN6 disease, juvenile
	CLN6 disease, adult
CLN7/MFSD8	CLN7 disease, late infantile	Late-infantile variant	Major facilitator superfamily domain-containing protein 8
CLN8	CLN8 disease, late infantile	Late-infantile variant	Protein CLN8
		EPMR (progressive epilepsy with mental retardation)
CLN10/CTSD	CLN10 disease, congenital	Congenital classic	Cathepsin D
	CLN10 disease, late infantile	Late-infantile
	CLN10 disease, juvenile	Adult
	CLN10 disease, adult
CLN11/GRN	CLN11 disease, adult	Adult (heterozygous mutations	Progranulin
		cause frontotemporal lobar dementia)
CLN12/ATP13A2	CLN12 disease, juvenile	CLN12 disease	ATPase type 13A2
		Juvenile (mutations also cause Kufor-Rakeb syndrome)
CLN13/CTSF	CLN13 disease, adult	Adult Kufs type B	Cathepsin F
CLN14/KCTD7	CLN14 disease, infantile	CLN14 disease, infantile	Potassium channel tetramerization domain containing protein 7

Adapted from Williams RE and Mole SE 2012 (86) with permission.