TABLE 2.
Gene expression of leukodystrophy associated genes across neural cell types.
| Disease | Gene | Genebank ID | Astrocyte | Neuron | OPCs | Oligo-dendrocyte | Microglia | Vascular endothelial cells |
| Hypomyelinating | ||||||||
| Pelizaeus-Merzbacher like disease | Gjc2 | 118454 | - | - | - | +++ | - | - |
| Pelizaeus-Merzbacher disease | Plp1 | 18823 | - | - | - | +++ | - | - |
| Hypomyelination with atrophy of the Basal Ganglia and cerebellum (H-ABC) | Tubb4a | 22153 | - | - | - | +++ | - | - |
| Sox10 associated PCWH syndrome | Sox10 | 20665 | - | - | ++ | ++ | - | - |
| Vacuolating | ||||||||
| Canavan disease | Aspa | 11484 | - | - | - | +++ | - | - |
| Cx32- related Charcot-Marie-Tooth disease | Gjb1 | 14618 | - | - | - | +++ | - | - |
| Demyelinating | ||||||||
| Krabbe disease | GalC | 14420 | + | - | ++ | ++ | - | + |
| Metachromatic leukodystrophy | Arsa | 11883 | + | + | + | + | + | + |
| X-linked adrenoleukodystrophy, | Abcd1 | 11666 | - | - | - | + | ++ | - |
| Multiple sulfatase deficiency | Sumf1 | 58911 | + | + | + | + | ++ | + |
| Astrocytopathies | ||||||||
| Megalencephalic leukodystrophy with subcortical cysts | Mlc1 | 170790 | +++ | - | - | - | - | - |
| Oculodentodigital Dysplasia with cerebral white matter abnormalities | Gja1 | 14609 | +++ | - | - | - | - | + |
| Alexander disease | Gfap | 14580 | +++ | - | - | - | - | - |
| CIC2 related leukoencephalopathy | Clcn2 | 12724 | ++ | + | + | ++ | - | - |
| Vanishing White Matter Disease | eIf2b1 – 5* | 209354, 217715, 108067, 13667, 224045 | + | + | + | + | + | + |
| Aicardi Goutieres Syndrome | Rnaseh2a, b, c | 69724, 67153, 68209 | +/+/+ | +/+/+ | +/++/+ | +/+/+ | +/+/++ | +/+/++ |
| Microgliopathies | ||||||||
| Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) | Csf1R | 12978 | - | - | - | - | +++ | - |
| Nasu disease | Tyrobp | 22177 | - | - | - | - | +++ | - |
| α-Mannosidosis | Man2b1 | 17159 | - | - | - | - | +++ | - |
| Disease | Gene | Genebank ID | Astrocyte | Neuron | OPCs | Oligo-dendrocyte | Microglia | Vascular endothelial cells |
| Leuko-axonopathies | ||||||||
| Developmental and epileptic encephalopathy 29 | Aars1 | 234734 | + | + | + | + | + | - |
| Leukoencephalopathy, progressive with ovarian failure | Aars2 | 224805 | + | + | + | + | + | + |
| Hypomyelination with brainstem spinal cord involvement & leg spasticity | Dars1 | 226414 | + | + | + | + | - | + |
| Leukoencephalopathy w brainstem, spinal cord involvement, elevated lactate | Dars2 | 226539 | + | + | + | + | + | + |
| Combined oxidative phosphorylation deficiency 12 | Ears2 | 67417 | + | + | + | + | + | - |
| Leukodystrophy, hypomyelinating 9 | Rars1 | 104458 | + | + | + | + | + | - |
| AIMP1 related disease | Aimp1 | 13722 | - | + | + | + | - | + |
| H4 leukodystrophy | Polr3a, b* | 218832, 70428 | + | + | + | + | + | + |
| GM1 Gangliosidosis | Glb1 | 12091 | + | + | + | + | + | - |
| Tay-Sachs GM2 Gangliosidosis | Hexa, Hexb* | 15211 | - | - | - | - | +++ | - |
| Sanfilippo syndrome (MPS IIIA) | Naglu/Sgsh | 27419, 27029 | - / + | - / - | - / + | - / + | ++ | - / + |
| Leuko-vasculopathies | ||||||||
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | Notch3 | 18131 | +++ | - | - | - | - | + |
| Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | Htra1 | 56213 | ++ | - | + | - | - | + |
*Expression pattern of genes in this family are similar.