Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

Table 1 Clinical features of the c.255+1G>T mutation of cerebrotendinous xanthomatosis as reported in the literature

Patients	Patient 1[11]	Patient 2[11]	Patient 3[11]	Patient 4[11]	Patient 5[12]	Patient 6
Country	South Africa	South Africa	South Africa	South Africa	China	China
CYP27A1 mutations	c.2T>C, c.255+1G>A	c.2T>C, c.255+1G>A	c.2T>C, c.255+1G>A	c.2T>C, c.255+1G>A	c.1263+1G>A, c.255+1G>T	c.1263+1G>A, c.255+1G>T
Sex	M	F	F	M	F	F
Age at diagnosis in yr	50	47	47	46	34	33
Diarrhea	-	-	-	-	-	-
Tendon xanthomata	+	+	+	+	+	+
Cataracts	-	-	-	-	+	+
Neurological symptoms	-	-	-	-	Ataxia, dysarthria, pyramidal signs/spasticity, cognitive impairment	Ataxia, dysarthria, pyramidal signs/spasticity
Psychiatric symptoms	-	Depression +	-	-	+	-
Brain MRI	-	Cerebellar atrophy, involvement of basal ganglia, dentate nuclei	NP	NP	Cerebellar atrophy, involvement of basal ganglia, dentate nuclei	Cerebellar atrophy, involvement of basal ganglia, dentate nuclei

Patients 1-4 are members of one South African family; Patient 5 is from China; Patient 6 is from this report. +: Positive; -: Negative; F: Female; NP: Not performed; M: Male; MRI: Magnetic resonance imaging.