Table 1

Clinical and MRI features for early-onset CMT patients with MFN2 mutations

Nt changes (AA changes)CMT phenotypesBrain MRI examination
Case NoFamily IDSexOnset age (yrs)DisabilitiesMNCV/SNCV (m/s)Additional symptomsFirst (years)Follow-up (years)FindingsReference
1*FC1F
  • c.1090C→T

  • (R364W)

8Wheelchair boundNR/NROptic atrophy, scoliosis3638Bilateral middle cerebellar peduncles
2* FC1F
  • c.1090C→T

  • (R364W)

1Wheelchair boundNR/NRScoliosis, contracture1215No abnormal finding
3* FC1F
  • c.1090C→T

  • (R364W)

1Wheelchair boundNR/NRScoliosis, contracture1215No abnormal finding
4*FC6F
  • c.1090C→T

  • (R364W)

5Wheelchair boundNR/NROptic atrophy, vocal cord paralysis3336No abnormal finding
5*FC6M
  • c.1090C→T

  • (R364W)

2Wheelchair boundNR/NROptic atrophy, scoliosis1416No abnormal finding
6FC6M
  • c.1090C→T

  • (R364W)

2Inability to runNDLower leg pain3NDNo abnormal finding
7*FC34M
  • c.275T→C

  • (L92P)

1Walk with AFONR/NRScoliosis1316No abnormal finding
8*FC55F
  • c.1090C→T

  • (R364W)

3Walk with AFO44/NRScoliosis36, 9Right frontal confluent lesion, bilateral periventricular frontal lobes4
9FC81F
  • c.494A→G

  • (H165R)

7Inability to run53/31Lower leg pain58, 9Diffuse hyperintensities in bilateral periventricular frontal lobes
10*FC87F
  • c.1090C→T

  • (R364W)

4Wheelchair boundNR/NRScoliosis, contracture2325Bilateral dentate nuclei hyperintensities
11*FC87M
  • c.1090C→T

  • (R364W)

1Inability to run, hand impairedNR/NRLower leg pain36No abnormal finding
12*FC113F
  • c.280C→T

  • (R94W)

8Wheelchair boundNR/NRScoliosis, contracture3840Diffuse hyperintensities in bilateral periventricular frontal lobes
13*FC113M
  • c.280C→T

  • (R94W)

4Walk with AFO53/NRScoliosis69No abnormal finding
14FC250F
  • c.280C→T

  • (R94W)

8Walk with AFO40/NRTransient sensory loss, vocal cord paralysis35NDLeft pons, bilateral confluent frontal, temporal, parietal lobes
15FC257M
  • c.1048T→C

  • (S350P)

3Walk with AFO48/NRPain8NDHyperintensities in periventricular left parietal lobe
16FC280F
  • c.839G→A

  • (R280H)

8Walk with AFO42/34Scoliosis, contracture37NDNo abnormal finding
17FC337F
  • c.1090C→T

  • (R364W)

8Wheelchair boundNR/NROptic atrophy, scoliosis48NDNo abnormal finding
18FC337F
  • c.1090C→T

  • (R364W)

1Wheelchair boundNR/NROptic atrophy, scoliosis26NDNo abnormal finding
19M
  • c.310C→T

  • (R104W)

3Wheelchair boundNR/NROptic atrophy, hyperreflexia1117Diffuse hyperintensities in parieto-occipital lobes9
20M
  • IVS5-1G→C

7Hand impaired59/60Macrocephaly14NDBilateral thalami, periventricular parieto-occipital lobes9
21DUKE 2158M
  • c.1252C→T

  • (R418X)

1Wheelchair bound53/54Optic atrophy, vocal cord paralysis11NDBilateral cerebellar peduncles7
  • * MFN2 mutations and CMT phenotypes were previously reported by Chung et al.3

  • Case 2 and 3 are identical twin.

  • MFN2 mutations and CMT phenotypes were previously reported by Cho et al.8

  • Median motor nerve conduction velocity and sensory nerve conduction velocity were detected on right median nerve. Normal NCV values: motor nerve ≥51 m/s; sensory nerve (finger-wrist segment) ≥39 m/s.

  • AFO, ankle foot orthosis; MNCV, median motor nerve conduction velocity; ND, not done; NR, not recordable; SNCV, median sensory nerve conduction velocity.