From: An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Patients | II.1 | II.2 | II.3 |
---|---|---|---|
Sex/age | F/51 | F/49 | F/44 |
Age at onset of gait ataxia | 12 | 9 | 12 |
Disease duration (years) | 39 | 40 | 32 |
Interval onset-wheelchair (years) | 21 | 28 | 23 |
Initial symptom | Chorea/myoclonia | Chorea/myoclonia | Chorea/myoclonia |
Oculomotor anomalies | |||
OMA | - | - | - |
Hypometric saccades | +++ | +++ | +++ |
Saccadic pursuit | + (33 yrs.)* | + (34 yrs.)* | + (26 yrs.)* |
Strabismus | - | - | + |
Ptosis | +(39 yrs) | - | - |
Pyramidal signs | |||
Plantar Reflex | - | Extension | - |
Involuntary movements | |||
Head/hand tremor | ++(24 yrs.) | ++(30 yrs.) | ++(32 yrs.) |
Myoclonus | UL, LL | UL, LL | UL, LL |
Dystonia | +(33 yrs.) | +(40 yrs.) | - |
Facial Dyskinesia/ Choreic movements | + | + | + |
Other Extra-pyramidal signs | Bradikynesia/hypomimia | Bradikynesia/hypomimia | Bradikynesia/hypomimia |
Reflexa | Absent UL/LL | Absent UL/LL | Absent UL/LL |
Peripheral neuropathy | |||
Distal amiotrophy (UL, LL) | +++ | +++ | +++ |
Deep sensory loss | +++ | +++ | +++ |
Sensory loss | +++ | - | - |
Pain and light touch | DecreasedUL;absent LL | Decreased UL;absent LL | Decreased UL; loss LL |
Sensory motor neuropathy | +++ | +++ | +++ |
Others | |||
SARA Score | 27/40 | 27/40 | 23/40 |
IQ (WAISS) | 93 (102/83) | 87 (86/89) | 77 (78/78) |
Progression of disability | 17;21;36** | 17;21;37** | 17;21;38** |
Pes cavus | - | - | - |
Kyphoscoliosis | +++ | +++ | +++ |
Early menopause (yrs) | 33 | 32 | 34 |
Brain MRI | |||
Vermian Atrophy | +++ | +++ | +++ |
Brainstem atrophy | - | - | ++ |
Biochemistry | |||
AFP, ng/ml (normal level <7 ng/ml) | 19 | 61 | 37 |
Cholesterol | norm | norm | norm |
Genetics | |||
SETX homozygous mutation | c.6292C > T (p.Arg2098*) | c.6292C > T (p.Arg2098*) | c.6292C > T (p.Arg2098*) |
AFG3L2 heterozygous mutation | c.346G > A (p.Gly116Arg) | c.346G > A (p.Gly116Arg) | c.346G > A (p.Gly116Arg) |