Table 2.

Neuroimaging presentations, gene mutations, plasma homocysteinemia and urine MMA level of 16 cases with late-onset cblC disease

Case No.	Brain MRI	Spinal cord MRI	Plasma homocysteinemia level (μmol/L, normal range: 5.0–15.0)	MMA level (μg/mg creatinine, normal range: 0.2–3.6)	MMAHC mutation
1	Bilateral white matter lesions in the centrum ovale and corona radiata	Thoracic lesions	101.60	232.18	c.482G > A, c.609G > A
2	Bilateral white matter lesions in the bilateral periventricular white matter	–	135.7	191.22	c.482G > A, c.567dupT
3	Cerebral atrophy and bilateral cerebellar cortex lesions	–	57.2	70.53	c.482G > A, c.1A > G
4	Bilateral white matter lesions	–	79.8	166.64	c.482G > A, c.609G > A
5	Cerebral atrophy	Normal	99	321.12	c.482G > A, c.609G > A
6	Mild cerebral atrophy	–	88	340.8	c.482G > A, c.626dupT
7	Cerebral atrophy	Normal	97.7	172.4	c.567dupT, c.565C > A
8	Cerebral atrophy and white matter lesions in unilateral posterior ventricular area.	–	99.1	189.16	c.467G > A, c.482G > A
9	Normal	–	115.3	253.68	c.482G > A,c.656_658del
10	Mild cerebral atrophy	–	75.7	262.03	c.482G > A, c.656_658del
11	Cerebral atrophy	Normal	121	168.05	c.482G > A, c.427C > T
12	Normal	Normal	93.6	81.62	c.482G > A, c.609G > A
13	Cerebral atrophy and bilateral cerebellum atrophy	–	102.6	58.42	c.482G > A, c.658_660del
14	Cerebral atrophy	–	86	288.85	c.482G > A, c.609G > A
15	Hippocampus atrophy	Normal	114.1	116.04	c.326_329del, .482G > A
16	Mild cerebral atrophy	Normal	124.5	184.71	c.482G > A, c.609G > A