Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Table 2 Biochemical abnormalities in fibroblasts from patient 1 and 5 other patients with PEX2 mutations.

	Controls (5% - 95% range)	Patient 1	Other PEX2 deficient patients
			1	2	3	4	5
▪ Peroxisomal beta-oxidation^a
- C26:0	1214-1508	1296	186	1172	98	78	215
- Pristanic acid	675-1121	1114	2	495	41	1	23
▪ Phytanic acid alpha-oxidation^a	39-97	28	5	ND	2	1	15
▪ Plasmalogen de novo synthesis
- %pPE in PE	72.8-81.4	79.6	58.5	0.8	17.4	10.4	35.4
- %pPC in PC	3.3-5.5	5.8	1.1	0.5	2.8	1.3	4.2
▪ DHAPAT-activity^b	5.8-12.3	8.3	0.7	7.8	0.6	1.3	`0.8
▪ Catalase immunofluorescence	+	+	-	+/-	-	-	-
▪ Immunoblot analysis
- Acyl-CoA oxidase (70/50/20 kDa)	+/+/+	+/+/+	+/-/-	+/+/+	+/-/-	+/-/-	+/-/-
- Peroxisomal thiolase (44/41 kDa)	+/+	+/+	+/-	+/-	+/-	+/-	+/-

Patients 1-4 are described in ref 12. Patient 5 is a newly identified PEX2 patient with severe clinical phenotype. ^apmol/(h.mg protein); ^bnmol/(2 h.mg protein).
List of abbreviations: DHAP-AT, dihydroxyacetonephosphate-acyltransferase; DHCA, dihydroxycholestanoic acid; PC, total phosphatidylcholine; pPC, plasmalogen phosphatidylcholine; PE, total phosphatidylethanolamine; pPE, plasmalogen phosphatidylethanolamine; THCA, trihydroxycholestanoic acid; VLCFA, very-long chain fatty acids.

ISSN: 1750-1172