Table 1.

The clinical presentations, treatments, and outcomes of cases with late-onset CblC deficiency.

Patient No. [Reference]	Diagnose age	Clinical symptoms	MRI or EMG results	Serum Hcy levels (μM/L)	Gene mutations	Outcome
1 (our patient)	29	Cognitive decline, cannot recognize family members, inaccurate answers and often non-sense	Symmetrical bilateral cerebellar lesions with Gd enhancement	178.41	c.484G>A/c.658_660del	Improved
2 (4)	11	Learning difficulties Behavioral changes Ataxia and myoclonic jerks	Dilation of subarachnoid Space frontoparietally	225	–	Improved
3 (13)	33	Insomnia, exaggerated Expression	Mild diffuse atrophy of cerebral cortex	65	c.482G>A/c.658_660del	Improved
4 (14)	19	Posture change	Hyperintensity in the cerebellum and right basal ganglia, with modest cerebrum atrophy	69.5	c.482G>A/c.445_446del	Improved
5 (13)	29	Irritability, euphoria Cognitive impairment	Mild diffuse atrophy of cerebral cortex	115.3	c.482G>A/c.658_660del	Improved
6 (10)	11	Clinical cognitive Deficit, limb weakness	Peripheral nerve damage	103.3	c.609G>A	–
7 (10)	18	Abnormal gait	Mild peripheral nerve damage	61.4	c.609G>A/ c.482G>A	–