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Table 1 Clinical features in the five patients harboring the mutation in the IK family

From: Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred

  III-04 IV-04 IV-07 IV-13 IV-25
Age/Sex 86/M 53/M 60/F 54/F 42/F
Age at Onset, yrs 51 47 50 39 NA
Disease duration, yrs 35 6 10 15 0
SPRS score a 47 12 6 16 0
SPRS item 13 b 4 1 1 1 0
Spasticity score LL c 4 2 1 2 0
Muscle strenght score LL d 0 5 4 4 5
Hyperreflexia UL/LL Contracture 0/+ + + 0/+ + +/+ + + 0/0
Babinski sign + + Indifferent + Indifferent
Decreased vibration sense na No No No No
EMG/NCS na/na Abnormal*/n n/n n/n na/na
Miscarriage/Pregnancy    1/3 0/0 0/1
  1. M man, F woman, UL Upper Limbs, LL Lower Limbs, na not available, EMG electromyography, NCS nerve conduction studies, n Normal; *slight impairment but no frank signs of denervation.
  2. aThe SPRS score ranges from 0 (normal) to 52 (severely affected) [12]; b1 = Urinary urgency (difficulties to reach toilet in time); 4 = Permanent catheterization; cThe Modified Ashworth Scale of Muscle Spasticity score ranges from 0 (no increase in tone) to 4 (affected parts rigid in flexion or extension) [13]; dThe Medical Research Council Scale for Muscle Strength score ranges from 0 (no contraction) to 5 (normal strength) [14].