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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

VariablePatient1Patient2Patient3Patient4Patient5Patient6
CYP27A1 mutationc.435G > Tc.1214G > Ac.1435C > Tc.368_374delCCAGTACc.1016C > Tc.389 T > A
 c.571C > Tc.1435C > Tc.1435C > Tc.379C > Tc.1420C > Tc.1263 + 1G > A
GenderMaleMaleMaleMaleMaleMale
Age454030322427
Age of diagnosis384030322427
Diarrhoea+
Tendon xanthomas+++
Cataracts+
Epilepsy+
Cognitive impairment++
Pyramidal signs++++++
Cerebellar signs++++
EEG abnormality++NP+++
Dentate nuclei lesions++NP+
  1. NP: Not present