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Table 1 Clinical data of the four cerebrotendinous xanthomatosis (CTX) patients

From: Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis

Family I II
Case No 1 2 1 2
Gender F M M M
Age (years) 54 50 31 29
Age at CTX diagnosis (years) 37 32 24 23
Disease duration at neuromuscular study (years) 49 45 21 17
Body height (cm) 143 155 164 175
Body weight (kg) 45 50 74 114
Genetic mutation (CYP 27 gene) Homozygous: 305delC (exon 2) Heterozygous: 1333C > T (exon 8) and IVS 7+1G > A (intron 7)
Clinical manifestation     
   Tendinous xanthomatosis + + + +
   Cataracts + + + +
   Osteoporosis with multiple fractures + + - -
   Mental retardation + + + +
   Cerebellar sign + + + +
   Pyramidal sign + + + +
   Parkinsonism + + - -
   Glove-stock paresthesia - - - -
   Hyporefelxia - - - -
   Distal foot muscle atrophy - - - -
   Posture related problems - - - -
   Sphincter problems - - - -
   Sweating problems - - - -
  1. No = number; + = present; - = absent; F = female; M = male