Table 1.

Genetic spectrum and new nomenclature of NCL diseases.

Disease	MIM number/reference	Gene	Protein
CLN1 disease, infantile	#256730	CLN1/PPT1	PPT1a
CLN1 disease, late-infantile
CLN1 disease, juvenile
CLN1 disease, adult
CLN2 disease, late-infantile	#204500	CLN2/TPP1	TPP1a
CLN2 disease, juvenile
CLN3 disease, juvenile	#204200	CLN3	Transmembrane protein
CLN4 disease, adult (AD inheritance)	#162350	CLN4/DNAJC5	Soluble cysteine string protein α
CLN5 disease, late-infantile	#256731	CLN5	Soluble lysosomal protein
CLN5 disease, juvenile
CLN5 disease, adult
CLN6 disease, late-infantile	#601780	CLN6	Transmembrane protein
CLN6 disease, adult (Kufs type A)
CLN7 disease, late-infantile	#610951	CLN7/MFSD8	Transmembrane protein
CLN8 disease, late-infantile	#600143	CLN8	Transmembrane protein
CLN8 disease, EPMR
CLN10 disease, congenital	#610127	CLN10/CTSD	Cathepsin Da
CLN10 disease, late-infantile
CLN10 disease, juvenile
CLN10 disease, adult
CLN11 disease, adult	[9]	CLN11/GRN	Progranulinb
CLN12 disease, juvenile	[10]	CLN12/ATP13A2	ATPase type 13A2c
CLN13 disease, adult (Kufs type B)	[13]	CLN13/CTSF	Cathepsin Fa
CLN14 disease, infantile	[12]	CLN14/KCTD7	Potassium channel tetramerization domain containing protein type 7d

^aLysosomal enzymes.

^bGRN mutations also in Frontotemporal lobar degeneration with TDP43 inclusions MIM #607485.

^cATP13A2 mutations also in Kufor–Rakeb syndrome (KRS, Parkinson disease 9) MIM #606693.

^dKCTD7 mutations also seen in progressive myoclonic epilepsy type 3 (EPM3) MIM #611726.