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Table 1 Demographic and neuropsychological evaluation of the five cerebrotendinous xanthomatosis patients

From: Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations

  Case 1 Case 2 Case 3 Case 4 Case 5
Gender male male female male female
Age (years) 29 27 54 49 48
Age at diagnosis (year old) 24 23 37 32 31
Clinical features      
   Cataract + + + + +
   Mental Retard mild to moderate mild moderate moderate moderate
   Psychiatric diagnosis Anxiety none none none Dysthymia
   Epilepsy + - - - -
   Achilles tendon xanthoma + + + + +
   Ataxia + + + + +
MRI follow up numbers (times) 3 3 6 6 6
Image features at diagnosis and follow up      
Dilation of 4th ventricle at diagnosis + + + + +
Peri-dentate WM change + + + + +
Peri-ventricular WM + + + + +
hyper-intensity      
Cerebellar WM changes + + + + +
WAIS-R at diagnosis 64/49/55 71/65/67 55/54/49 50/50/45 50/50/45
(VIQ/PIQ/FIQ)      
WAIS-R (VIQ/PIQ/FIQ) 64/49/55 71/65/67 62/57/55 54/57/49 54/57/49
Mini-mental state examination 24 23 7 6 7
Clinical dementia rating 0.5 0.5 2 2 2
CASI (100) 75.7* 73.8 * 19* 24.2* 25.7*
   Mental manipulation (10) 2 7 0 1 2
   Attention (8) 8 6 5 5 5
   Orientation (18) 18 16 4 4 4
   Long term Memory (10) 4 4 0 0 0
   Short term Memory (12) 12 9.8 1.5 2.7 3.7
   Abstract thinking (12) 10 9 2 5 6
   Drawing (10) 6 8 5 5 4
   Verbal fluency (10) 6 6 1 1 1
   Language (10) 9.7 8 0.5 0.5 0
  1. WAIS-R = Wechsler Adult Intelligence Scale-Revised; CASI = Cognitive ability screening instrument; (+) = present; (-) = absent; WM = white matter; MRI = magnetic resonance imaging.
  2. *score < 5 percentile in CASI, numbers in the parenthesis indicate maximal score;