III-2 (Family 1) | III-3 (Family 1) | II-2 (Family 2) | II-8 (Family 3) | |
---|---|---|---|---|
Gender | F | F | F | F |
Age at onset (years) | 20 | 16 | 30 | 25 |
Disease duration (years) | 5 | 7 | 20 | 19 |
Initial symptom | GU | GU/SS | GU | GU/SS/T |
Ataxia | TL | L | L | TL |
Nystagmus | H | V | _ | H |
Slow saccade | _ | + | _ | _ |
Diplopia | + | + | _ | _ |
Dysarthria | + | + | + | + |
Tremor | TL | L | _ | TL |
Pes cavus | + | + | _ | _ |
Tendon reflexes | absent | decreased | decreased | left brisk |
Babinski sign | right positive | bilateral positive | negative | NA |
AFP (<20 ng/ml) | 81.1 | 40.3 | 9.74 | NA |
LDL (2.1 ~ 3.1 ng/mL) | 1.68 | 1.79 | 4.16 | NA |
cholesterol (3.1–6 nmol/L) | 3.90 | 3.45 | 7.84 | NA |
triglyceride (<1.69 nmol/L) | 0.46 | 0.71 | 2.76 | NA |
MMSE (30) | 28 | 29 | NA | NA |
EMG | SMN | SMN | NA | NA |
Brain MRI | CA | CA | CA | CA |
EEG | borderline | normal | NA | normal |
Other features | hand deformity | hand deformity | diabetes; macula lutea impairment | myoclonic jerks; involuntary movement |