. Author manuscript; available in PMC: 2014 Mar 1.

Published in final edited form as: Gene. 2012 Dec 22;516(1):10.1016/j.gene.2012.12.058. doi: 10.1016/j.gene.2012.12.058

Table 3.

Comparative summary of CLN2 South American patients grouped according to their null/residual TPP1 activity.

CLN2	Subgroup I	Subgroup II
Onset age	3–5 y (average: 3.6 y)	2–9 y (average: 5.5 y)

Evolution time	2–12 y (average: 6.4 y)	3.5–27 y (average: 11.3 y)

Presenting symptoms	Seizures (85%)	Seizures (75%)

Epileptic syndrome	100%	83%

Altered MRI	3.5–5 y	7–11 y

Altered EEG	3 y -	11–13 y

Visual failure	5 y (77%); no (23%)	10 y (66.7%); no (33.3%)

Ataxia	3.5 y (85.7%); no (14.3%)	10 y - (100%)

Motor regression	2.5 y (100%)	7 y - (100%)

Language difficulties	2.5 y (100%)	11 y - (88.9%); no (11.1%)

Mental regression	3 y (100%)	5–11 y (100%)

TPP1 residual activity	No (100%)	Yes (100%)

Vacuolated lymphocytes	Negative (100%)	Negative (87.5%); positive (12.5%)

TEM	Pure CB (100%)	Pure CB (40%); atypical deposits (60%): CB+FP/CB+FP+GROD/FP

Mutations	Novel:	Novel:
	Missense:	Missense:
	E8 p.Arg350Trp, E13 p.Gly535Arg	E8 p.Arg350Trp,
	Known:	E11 p.Ala453Asp, E13 p.Gly535Arg
	Missense:	Deletion:
	E7 p.Asp276Val^a, E8 p.Arg339Gln^b,	E9 c.1107-1108delTG
	E11 p.Ala453Val^a	Known:
	Nonsense:	Missense:
	E4 p.Leu104^a, E6 p.Arg208^b	E7 p.Asp276Val^a, E11 p.Ser475Leu^b,
	Intronic:	E11 p.Arg447His^b
	I5 c.509-1G>C^b	Nonsense:
		E6 p.Arg208^b, E3 p.Gln66^b
		Intronic:
		I7 c.887-10A>G^b; I2 c.89+5G>C^b

Allele combination	Homozygous (54.5%); heterozygous (45.5%)	Heterozygous 100%

MRI, Magnetic resonance images; EEG, electroencephalogram; TEM, transmission electron microscopy; y, years;

mutations previously published by our group in South American patients;

globally recognized mutations.