Table 2.
Synopsis of patients with elevated VLCFA without X-ALD/ABCD1 gene mutations.
| ID | diagnosis | ♀/♂ | age [years] |
behenic acid (C22:0) [µmol/l] |
lignoceric acid (C24:0) [µmol/l] |
cerotic acid (C26:0) [µmol/l] |
ratio C24:0/C22:0 | ratio C26:0/C22:0 | total cholesterol [mg/dl] |
TG [mg/dl] |
HDL [mg/dl] |
LDL [mg/dl] |
Comments |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 65 | SPG4 | ♀ | 58 | 104.7 | 88.3 | 0.33 | 0.84 | 0.003 | 247 | 154 | 65 | 160 | |
| 69 | SPG4 | ♂ | 40 | 105.5 | 99.4 | 0.44 | 0.94 | 0.004 | 283 | 502 | 55 | 171 | |
| 76 | SPG39 | ♂ | 54 | 105.2 | 103.2 | 0.43 | 0.98 | 0.004 | 298 | 118 | 74 | 215 | |
| 77 | SPG31 | ♂ | 60 | 33.4 | 48.2 | 0.39 | 1.29 | 0.012 | n.a. | n.a. | n.a. | n.a. | Tested neg. for ABCD1 mut |
| 112 | WMD | ♀ | 79 | 140.6 | 96.3 | 0.96 | 0.69 | 0.01 | n.a. | n.a. | n.a. | n.a. | |
| 113 | HSP | ♂ | 59 | 93.0 | 101.8 | 1.16 | 1.09 | 0.012 | 275 | 289 | 67 | 175 | (Normal VLCFA in follow-ups) tested neg. for ABCD1 mut |
| 115 | HSP | ♀ | 72 | 115.9 | 92.4 | 0.61 | 0.80 | 0.01 | n.a. | n.a. | n.a. | n.a. | Tested neg. for ABCD1 mut |
| 119 | HSP | ♀ | 63 | 130.9 | 86.4 | 1.0 | 0.66 | 0.01 | n.a. | n.a. | n.a. | n.a. | Tested neg. for ABCD1 mut |
| 120 | HSP | ♀ | 37 | 101.7 | 91.3 | 1.03 | 0.90 | 0.01 | n.a. | n.a. | n.a. | n.a. | Tested neg. for ABCD1 mut |
| 121 | HSP | ♀ | 55 | 108.4 | 117.0 | 1.28 | 1.08 | 0.012 | 351 | 92 | 61 | 158 | Tested neg. for ABCD1 mut |
| 122 | HSP | ♂ | 50 | 82.8 | 96.1 | 1.43 | 1.16 | 0.017 | 217 | 136 | 58 | 107 | Tested neg. for ABCD1 mut |
| 124 | HSP | ♀ | 47 | 110.4 | 87.3 | 2.65 | 0.79 | 0.024 | 514 | 1501 | 31 | 102 | Tested neg. for ABCD1 mut |
| 129 | frontal PSP | ♂ | 61 | 50.0 | 70.7 | 1.19 | 1.42 | 0.024 | 198 | 139 | 42 | 154 | Tested neg. for ABCD1 mut |
| 174 | CADASIL | ♀ | 53 | 105.9 | 90.1 | 0.95 | 0.85 | 0.009 | 229 | 60 | 86 | 121 | Tested neg. for ABCD1 mut |
| 176 | SCA3 | ♂ | 53 | 101.1 | 87.8 | 1.02 | 0.87 | 0.01 | 244 | 236 | 48 | 159 | Tested neg. for ABCD1 mut |
CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy = caused by autosomal dominant inherited mutations in the NOTCH3 gene; HSP: hereditary spastic paraplegia; mut.: mutations; n.a.: not analyzed; PSP: progressive supranuclear palsy an atypical form of Parkinson's diseases; SCA3: spinocerebellar ataxia type 3 or Machado-Joseph-Disease caused by autosomal dominant inherited CAG repeats in the ATXN gene; SPG4: spastic paraplegia type 4 = caused by autosomal dominant inherited mutations in the SPAST gene, SPG31: spastic paraplegia type 31 = caused by autosomal dominant inherited mutations in the REEP1 gene; SPG39: spastic paraplegia type 39 = caused by autosomal recessive inherited mutations in the PNPLA6 gene; TG: triglycerides; WMD: white matter disease or leukoenzephalopathy.
The bold marked values were above our preset cutoff values C26:0/C22:0 > 0.04; C24:0/C22:0 > 1.11; C22:0 > 115 µmol/l; C24:0 > 85 µmol/l; C26:0 > 1.9 µmol/l (compare Fig. 1). Lipid values elevated above the reference values are marked in bold.