Table 1.

Clinical features of six 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	–	+	–

NP: Not present