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Table 1 Neurological and biochemical features of AOA2 patients

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)
  1. Legend: − None; + Mild; ++ Moderate; +++ Severe; norm: normal; na: not available; *disease duration; UL Upper Limbs; LL Lower Limbs.
  2. **Progression of disability indicates gait possible with one help; with a double help; wheelchair bounded. WAISS Weschler adult intelligence Scale Score; total IQ, and verbal/non verbal IQ (among brackets) are indicated.