Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses

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FIG 1.
Time delay between disease onset (median, 3.6 years; IQR, 3 years) and clinical, radiologic, and histopathologic diagnoses (median, 5.1 years; IQR, 6.7 years) of NCL is depicted.
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FIG 2.
A 4-year-old boy with CLN2 disease. Axial FLAIR MR imaging shows hypointense thalami and hyperintense insular/subinsular region and posterior limb of the internal capsule (A); hyperintense periventricular and deep white matter (B), and hyperintense ventral pons (C). Note diffuse cerebral and cerebellar volume loss (A–C).
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FIG 3.
Progression of CLN2 disease. Coronal T2-weighted MR imaging at 6 years of age (A) shows no discernible volume loss. Follow-up MR imaging at 11 and 13 years of age (B and C) shows progressive cerebral and cerebellar volume loss. Note the greater degree of cerebellar volume loss relative to the cerebrum.
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FIG 4.
CLN7 disease. Coronal T2-weighted MR imaging of 4 different patients (A, B, C, and E) and coronal reformatted CT of 1 patient (D). Note cerebellar more than cerebral volume loss in all patients.

Table 1:

Subgroups of NCL, their genes, protein names, and MIM numbers

Locus Name	Gene Symbol	Protein Name	MIM Number
CLN1	PPT1	Palmitoyl protein thioesterase 1	600722
CLN2	TPP1	Tripeptidyl peptidase 1	607998
CLN3	CLN3	CLN3	607042
CLN4	DNAJC5	DnaJ homolog	611203
CLN5	CLN5	CLN5	608102
CLN6	CLN6	CLN6	601780
CLN7	MFSD8	Major facilitator superfamily	611124
CLN8	CLN8	CLN8	607837
CLN9	N/A	Unknown	609055
CLN10	CTSD	Cathepsin D	116840
CLN11	GRN	Granulins	138945
CLN12	ATP13A2	Probable cation transporting	610513
CLN13	CTSF	Cathepsin F	603539
CLN14	KCTD7	BTB/POZ domain-containing	611725

Table 2:

Clinical features of patients with NCL^{^a}

NCL Subtypes	Sex	Speech Delay n (%)	Visual Impairment n (%)	Seizures n (%)	Behavioral Abnormalities n (%)	Cognitive Decline n (%)	Developmental Regression n (%)
CLN1 disease (n = 6)	M (n = 4), F (n = 2)	5 (83)	5 (83)	4 (67)	3 (50)	5 (83)	5 (83)
CLN2 disease (n = 5)	M (n = 5)	4 (80)	3 (60)	4 (80)	2 (40)	4 (80)	4 (80)
CLN3 disease (n = 2)	M (n = 2)	2 (100)	2 (100)	1 (50)	2 (100)	2 (100)	2 (100)
CLN5 disease (n = 1)	F (n = 1)	1 (100)	1 (100)	1 (100)	1 (100)	1 (100)	1 (100)
CLN6 disease (n = 2)	M (n = 1), F (n = 1)	1 (50)	1 (50)	1 (50)	1 (50)	2 (100)	2 (100)
CLN7 disease (n = 6)	M (n = 4), F (n = 2)	6 (100)	2 (33)	6 (100)	2 (33)	6 (100)	6 (100)
CLN8 disease (n = 2)	M (n = 1), F (n = 1)	2 (100)	0 (0)	2 (100)	0 (0)	2 (100)	2 (100)

Table 3:

Brain MR imaging features of patients with NCL

NCL Subtypes	T2 hypointense thalami n (%)	T2 Hyperintensity n (%)				Volume Loss n (%)
NCL Subtypes	T2 hypointense thalami n (%)	Corpus Striatum	STWM (PVWM and/or DWM and/or SCWM and/or PLIC)	Insular/Sub-Insular	Pons	Supratentorial	Cerebellar
CLN1 disease (n = 6)	6 (100)	6 (100)	6 (100)	4 (67)	6 (100)	6 (100)	6 (100)
CLN2 disease (n = 5)	5 (100)	3 (60)	5 (100)	4 (80)	3 (60)	4 (80)	4 (80)
CLN3 disease (n = 2)	0 (0)	0 (0)	1 (50)	1 (50)	0 (0)	2 (100)	0 (0)
CLN5 disease (n = 1)	1 (100)	1 (100)	1 (100)	1 (100)	1 (100)	1 (100)	1 (100)
CLN6 disease (n = 2)	2 (100)	1 (50)	2 (100)	1 (50)	2 (100)	1 (50)	1 (50)
CLN7 disease (n = 6)	6 (100)	2 (33)	6 (100)	5 (83)	5 (83)	5 (83)	6 (100)
CLN8 disease (n = 2)	2 (100)	2 (100)	2 (100)	2 (100)	2 (100)	2 (100)	2 (100)