Table 1.

Genotype-phenotype correlations of the NCL disorder.

Disease	Prior designation	OMIM #	MI	Gene	Age of onset	Clinical phenotype	Early Symptoms and Signs	Usual survival	Pathology
CLN1	INCL	256730	AR	PPT1	6 -24mos	classic infantile	developmental failure, seizures, myoclonus, visual failure	2 - 6 yrs	GROD
					2 - 4yrs	late-infantile	dev regression, seizures, visual failure	5 - 12+ yrs
					4 - 6yrs	juvenile	visual failure, seizures, behavioral, dementia	10 -20yrs
CLN2	vLINCL	204500	AR	TPP1	2 - 4yrs	classic late infantile, [juvenile]	malignant seizures, myoclonus, developmental & visual failure	6 - 12+ yrs	CL
CLN3	JNCL (Batten)	204200	AR	CLN3	3 - 8yrs	classic juvenile	visual failure, dementia, behavioral and motor difficulties, late seizures	20 -40yrs	Vacuolated lymphocytes, FP, CL, RL
CLN4	ANCL (Parry)	162350	AD	DNAJC5	teenage - 30+	juvenile to adult	dementia, seizures, myoclonus, without visual loss	5 - 20yrs	GROD
CLN5	vLINCL 1	256731	AR	CLN5	3 - 7yrs	Variant late infantile, [juvenile, adult]	behavior abnl, cognitive decline, seizures, visual faliure, myoclonus, motor difficulties	teenage+	CL, FP, RL
CLN6	vLINCL 2	601780	AR	CLN6	1.5 -8yrs	Variant late infantile	visual failure, cognitive decline, seizures, myoclonus	teenage+	FP, CL
	ANCL Kufs, type A	204300			16 - 51 yrs	adult-onset	progressive myoclonic epilepsy, no retinal changes		FP, GROD
CLN7	vLINCL 3	610951	AR	MFSD8	1.5 -6yrs	Variant late infantile, [juvenile, adult]	visual failure, dementia, seizures, myoclonus	teenage+	RL, FP
CLN8	vLINCL	600143	AR	CLN8	1.5 -7yrs	variant late infantile	myoclonic seizures, visual failure, ataxia, cognitive decline	teenage+	GROD, CL [FP]
	EPMR	610003			5 -10yrs	Northern epilepsy	seizures, slow dementia without visual loss	40+	GROD, CL
CLN10	CNCL	610127	AR	CTSD	neonatal	congenital, [late infantile, adult]	Epileptic encephalopathy, microcephaly	< 1 yr	GROD
CLN11		614706	AR	GRN	early 20s	adult	visual failure, myoclonic seizures, ataxia, dementia	30+	FP
	FTLD-GRN	607485	AD		35 -65yrs	adult	myoclonic seizures, ataxia, cognitive decline	50+	TDP-43
CLN12	Kufor-Rakeb syndrome	606693	AR	ATP13A2	8 - 12 yrs	juvenile	parkinsonism, ataxia, dementia	30+	FP, vacuolated lymphocytes, NBIA
CLN13	Kufs, type B		AR	CTSF	20 -30yrs	adult	movement abnl (ataxia, tremor) and dementia, rare seizures		FP [brain]
CLN14	EPM3	611726	AR	KCTD7	<2 years	infantile	seizures, motor & speech regression, visual failure	teenage	FP. GROD

¹Variant initially described in a Finnish population and referred to as the Finnish variant.

²Formerly described as Lake-Cavanagh early-juvenile NCL variant and Indian-variant late-infantile NCL.

³Formerly also called Turkish variant.

OMIM: Online Mendelian Inheritance in Man (www.omim.org)

MI: Mode of inheritance

AR: autosomal recessive

AD: autosomal dominant

INCL: infantile NCL

LINCL: late-infantile NCL; vLINCL: variant LINCL

ANCL: adult NCL

CNCL: congenital NCL

EPMR: epilepsy, progressive, with mental retardation

EPM3: epilepsy, progressive myoclonic 3, with or without intracellular inclusions; mos: months

yrs: years

dev: developmental

abnl: abnormal

GROD: granular osmiophilic deposit

CL: curvilinear

FP: fingerprint

RL: rectilinear

NBIA: Neurodegeneration with brain iron accumulation