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

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

-

-

-

-