Table 1 Clinical features of patients with MFN2 mutation

Age at time of death, years (y)/ sex

72 y/ Male

72 y/ Male

Consanguinity

–

+

Family history

–

–

Clinical symptoms

  Age at onset, y

5 y

2 y

  Initial symptom

Gait instability

Gait instability

  Muscle atrophy (U/L)*

 + , distal/ + , distal

 + , distal/ + , distal

  Proximal muscle weakness (MMT: U/L)

Moderate (3–5/1–4)

Moderate (3–4/0–3)

  Distal muscle weakness (MMT: U/L)

Severe (1/0)

Severe (1/0)

  Deep tendon reflexes (U/L)*

Loss/loss

Loss/loss

  Sensory impairment* (superficial/deep)

 + / + 

 + / N.A.

  Foot deformities

 + 

 + 

  Visual impairment

N.A.

N.A.

  Hearing loss

–

–

  Scoliosis

–

–

  Mental retardation

–

–

  Cognitive decline

–

–

  Cause of death

Aspiration pneumonia

Renal abscess

MRI findings

Optic tract** atrophy,

enlarged lateral ventricle,

DESH, subcortical WM and MCP to cerebellar WM hyperintensities on FLAIR

Optic nerve atrophy,

Lt. putaminal hemorrhage

subcortical WM hyperintensity on FLAIR