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Table 1 Clinical features of six patients with cerebrotendinous xanthomatosis

From: Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Variable

Patient1

Patient2

Patient3

Patient4

Patient5

Patient6

CYP27A1 mutation

c.435G > T

c.1214G > A

c.1435C > T

c.368_374delCCAGTAC

c.1016C > T

c.389 T > A

 

c.571C > T

c.1435C > T

c.1435C > T

c.379C > T

c.1420C > T

c.1263 + 1G > A

Gender

Male

Male

Male

Male

Male

Male

Age

45

40

30

32

24

27

Age of diagnosis

38

40

30

32

24

27

Diarrhoea

+

Tendon xanthomas

+

+

+

Cataracts

+

Epilepsy

+

Cognitive impairment

+

+

Pyramidal signs

+

+

+

+

+

+

Cerebellar signs

+

+

+

+

EEG abnormality

+

+

NP

+

+

+

Dentate nuclei lesions

+

+

NP

+

  1. NP: Not present