Table 1 Clinical manifestations and MFN2 genotype of CMT2A2 patients with central nervous system
Case | Gender | Onset age | Visiting age | Phenotypic characteristics | Genotype | Source of variation | Cranial MRI findings | Other symptoms | Document |
|---|---|---|---|---|---|---|---|---|---|
1 | woman | 3 years old | 6 years old | Early hairstyle, severe | c.1090C>T, p.R364W | De novo | Right frontal lobe combined with periventricular white matter T2 high signal | lateral curvature | [11] |
2 | woman | 23 years old | 45 years old | Late hairstyle, mild | c.839G>A, p.R280H | father | Fusion and subcortical multiple T2 and FLAIR hyperintensities in the left parietal lobe | Pain, dysarthria, tremor, migraine | [11] |
3 | woman | 25 years old | 52 years old | Late hairstyle, mild | c.839G>A, p.R280H | mother | Multiple subcortical T2 and FLAIR high signals | Pain, dysarthria, tremor, migraine | [11] |
4 | man | 20 years old | 38 years old | Late hairstyle, mild | c.839G>A, p.R280H | mother | Multiple subcortical white matter lesions | Sensorineural hearing loss, pain, tremor | [11] |
5 | woman | 42 years old | 49 years old | Late hairstyle, mild | c.1085C>T, p.T362M | mother | Left subcortical T2 and FLAIR high signals without abnormal enhancement | Temporary loss of sensation | [11] |
6 | woman | 50 years old | 64 years old | Late hairstyle, mild | c.494A>G, p.H165R | not in details | Multiple subcortical white matter lesions with high signal intensity on T2 and FLAIR | Sensorineural hearing loss, tremor | [11] |
7 | man | 10 years old | 35 years old | Late hairstyle, mild | c.494A>G, p.H165R | mother | Multiple subcortical white matter lesions with high signal intensity on T2 and FLAIR | Sensorineural hearing loss, tremors, hoarseness | [11] |
8 | man | 16 years old | 26 years old | Late hairstyle, mild | c.380G>A, p.G127D | De novo | Multiple non-specific subcortical hyperintense lesions | Plantar extensor response | [11] |
9 | woman | 38 years old | 48 years | Late hairstyle | c.1392+2T>C | not in details | Diffuse high T2 signal in upper brainstem and periaqueductal gray | Subacute encephalopathy | [12] |
10 | man | 3 years old | 18 years old | Early hairstyle, severe | c.310C>T, p.R104W | De novo | Supratentorial white matter, mainly located in the peripheries of ventricles with mild diffuse T2 and FLAIR hyperintensities | Optic atrophy, megacephaly | [13] |
11 | man | 7 years old | 14 years old | Early hairstyle, severe | IVS5-1G>C | father | Slight high T2 signal intensity in the parietal occipital white matter and symmetrical high T2 signal intensity in the lateral part of bilateral thalamus | Big head deformity | [13] |
12 | woman | <2 years old | 3 years old May | Early hairstyle | c.314C>T, p.T105M | mother | Patchy high signals of T2 and FLAIR in the lateral ventricle collateral and bilateral frontal lobe | Positive pyramidal tract sign | This example |