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Table 1 Clinical characteristics in a cohort of thirteen patients with CTX

From: Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

Demographic
 - Gender Female: 9 Male: 4  
 - Familial genetics Consanguinity: 4 Affected sibs: 6  
Age of onset [median; mean ± SD; range] (years)
 - Diarrhea 10/13, neonatal
 - School difficulties 11/13 [10; 9.9 ± 3.2; 5–15]
 - Cataract (age of surgery) 11/13 [13; 15.4 ± 13.8; 5–54]
 - Psychiatric symptoms 6/13 [15.5; 21.2 ± 11.7; 10–40]
 - Walking difficulties 11/13 [20; 21.4 ± 10.3; 12–50]
Neurological examination
 Age at examination [median; mean ± SD; range] (years) 30; 33 ± 13.8 (18–60)   
  - Dysmetria Yes: 7/13   
  - Tandem Unable: 5/13 Abnormal: 7/13 Normal: 1/13
  - LL spasticity Yes: 6/13   
  - UL spasticity Yes: 0/13   
  - LL reflexes (knee) Increased: 6/13 Absent: 3/13 Normal: 4/13
  - LL reflexes (ankle) Increased: 5/13 Absent: 3/13 Normal: 5/13
  - UL reflexes Increased: 9/13   Normal: 4/13
  - Plantar reflexes Upgoing: 7/13   Flexor/Indifferent: 6/13
  - Romberg Positive: 3/12   Negative: 9/12
  - LL proprioception Decreased: 10/11   Normal: 1/11
  - UL proprioception    Normal: 11/11
Eye movements    
 - Pursuit Saccadic: 8/13   Normal: 5/13
 - Saccades Dysmetric: 7/13   Normal: 6/13
Cognitive dysfunction 13/13   
 - Delayed cognition 10/13   
 - Dysexecutive/Decline 12/13   
Paroxysmal manifestations    
 - Myoclonic dystonia 7/13   
 - Epilepsy 1/13   
Osteoporosis 4/13
Tendon Xanthoma 3/13
Peripheral neuropathy 10/13 - Axonal (4/10), Demyelinating (5/10), Mixed (1/10)
Brain MRI/MRS
 - Global atrophy 3/13
 - Periventricular T2 hyperintensities 10/13
 - Increased choline peak (MRS) 13/13
 - Dentate nuclei T2 hyperintensities 12/13
 - Cerebellar atrophy 7/13