Leukodystrophy Types
Known Types of Leukodystrophy and Leukoencephalopathy
| Leukodystrophy or leukoencephalopathy | Gene | Also known as | Abbreviation | Further Information |
|---|---|---|---|---|
| 3-Methylglutaconic aciduria type 1 (MGCA1) | AUH | MGCA1 | ||
| AARS1-related white-matter disease | AARS1 | |||
| AARS2-related leukoencephalopathy | AARS2 | |||
| ACBD5 deficiency | ACBD5 | |||
| Acute Reversible Leukoencephalopathy and Alpha-Ketoglutarate Accumulation (ARLIAK) | SLC13A3 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate accumulation | ARLIAK | |
| Adrenoleukodystrophy (ALD), X-linked adrenoleukodystrophy (X-ALD) | ABCD1 | Cerebral X-linked adrenoleukodystrophy | ALD; x=X-ALD | https://www.leukonet.org.au/support-and-resources/ |
| Adrenomyeloneuropathy (AMN) | ABCD1 | AMN | ||
| Adult-onset autosomal dominant leukodystrophy | LMNB1; LMNB1 Upstream region | Autosomal dominant leukodystrophy (ADLD) | ADLD | |
| Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) | CSF1R-related disorder | Hereditary diffuse leukoencephalopathy with spheroids €“ HDLS; Neuroaxonal Leukoencephalopathy with axonal spheroids (Pigmented Orthochromatic Leukodystrophy (POLD) ; Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) | ALSP ; HDLS | https://www.leukonet.org.au/support-and-resources/ |
| Adult Polyglucosan Body Disease (APBD) | GBE1 | Polyglucosan Body Disease (PBD) | APBD , PBD | |
| Aicardi-Goutieres Syndrome | ADAR ; RNASEH2A; RNASEH2B ; RNASEH2C; SAMHD1; TREX1, IFIH1, LSM11,and RNU7-1 | Retinal vasculopathy with cerebral leukodystrophy (RCVL); Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) | AGS | https://www.leukonet.org.au/support-and-resources/ |
| Alexander Disease | GFAP | Alexander disease (type I) | https://www.leukonet.org.au/support-and-resources/ | |
| Alkaline ceramidase 3 deficiency (ACER3) | ACER3 | Leukodystrophy, progressive, early childhood-onset | ACER3 | https://omim.org/entry/617762 |
| Canavan Disease | ASPA | https://www.leukonet.org.au/support-and-resources/ | ||
| Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL) | CTSA | Galactosialidosis , Brain small vessel disease 6 with leukoencephalopathy | CARASAL | |
| Cavitating mitochondrial leukoencephalopathy | COA8 | |||
| Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) | NOTCH3 | CADASIL | https://www.leukonet.org.au/support-and-resources/ | |
| Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) | HTRA1 | |||
| Cerebrotendinous Xanthomatosis (CTX) | CYP27A1 | CTX | https://www.leukonet.org.au/support-and-resources/ | |
| CLCN2-related Leukoencephalopathy | CLCN2 | CLCN2-related Leukoencephalopathy , Chloride Ion Channel 2 (ClC-2) related leukoencephalopathy with intramyelinic oedema; Leukoencephalopathy with ataxia | ||
| Coats Plus Syndrome | CTC1 | Cerebroretinal microangiopathy with calcifications and cysts CRMCC (former name) | ||
| Cockayne Syndrome - CS | ERCC6 or ERCC8 | https://www.leukonet.org.au/support-and-resources/ | ||
| COL4A1-related disorders | COL4A1 | Porencephaly 1 | ||
| Cystic leukoencephalopathy without megalencephaly (CLEWM) | RNASET2 or LAMB1 | RNAse T2 deficient leukoencephalopathy; Cystic leukoencephalopathy (CL) | CLEWM or CL | https://pmc.ncbi.nlm.nih.gov/articles/PMC7251513/ |
| Deafness–dystonia–cerebral hypomyelination syndrome | BCAP31 | |||
| Dermatoleukodystrophy | ERCC2 | |||
| Early-onset calcifying leukoencephalopathy-skeletal dysplasia | CSF1R-related disorder | Leukoencephalopathy diffuse hereditary with spheroids | ||
| Elongation of Very Long-Chain Fatty Acids 4 (ELOVL4 Pseudo-Sjorgren Larsson) | ELOVL4 | |||
| Fucosidosis | FUCA1 | |||
| GM1 Gangliosidosis | GLB1 | Type III | ||
| GM2 Gangliosidosis | HEXA ; HEXB and GM2A | Tay-Sachs Disease | ||
| HMBS related leukodystrophy | HMBS | Leukoencephalopathy, porphyria-related | HMBS | |
| HSPD1-related hypomyelination | HSPD1, | Spastic paraplegia 13 | ||
| Hypomyelinating leukodystrophies (HLD) | HLD 3, 9, 14, 16, 17, 18, 19, 22, 23, 24, 25, 26, 27, and 28 | |||
| Hypomyelinating leukodystrophy type 20 (HLD20) | CNP | HLD20 | https://www.ncbi.nlm.nih.gov/medgen/1765130 https://omim.org/entry/619071 | |
| Hypomyelinating type 15 (HLD15) | EPRS1 | |||
| Hypomyelinating Type 9 (HLD 9) | RARS1 | HLD9 | ||
| Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) | TUBB4A | Hypomyelinating leukodystrophy 6 (HLD6) | H-ABC | https://www.leukonet.org.au/support-and-resources/ https://www.ncbi.nlm.nih.gov/medgen/436642 |
| Hypomyelination with Brainstem and Spinal Cord involvement and Leg Spasticity (HBSL) | DARS1 | Aspartyl-tRNA Synthetase Deficiency | HBSL | https://www.leukonet.org.au/support-and-resources/ |
| Hypomyelination with congenital cataracts (HCC) | FAM126A | HCC | ||
| Infantile-Onset Progressive Leukoencephalopathy (LEPID) | KARS1 | |||
| Krabbe Disease | GALC ; PSAP | Globoid Cell Leukodystrophy | https://www.leukonet.org.au/support-and-resources/ | |
| L-2-hydroxyglutaric aciduria (L2HGA) | L2HGA | L2HGA | ||
| Leigh Syndrome | SURF1 (over 100 different genes) | Leigh Disease; subacute necrotizing encephalomyelopathy; mitochondrial disorders with leukodystrophy in approx.20% cases | ||
| Leukodystrophy hypomyelinating 12 | VPS11 | Related autosomal recessive hypomyelinating leukodystrophy | ||
| Leukoencephalopathy with bilateral anterior temporal lobe cysts | RNASET2 | leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts | ||
| Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) | DARS2 | LBSL | https://www.leukonet.org.au/support-and-resources/ | |
| Leukoencephalopathy with calcifications and cysts (LCC) | SNORD118 | Labrune syndrome | LCC | https://www.leukonet.org.au/support-and-resources/ |
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) | EARS2 | LTBL | https://www.leukonet.org.au/support-and-resources/ https://alextlc.org/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-elevated-lactate-ltbl/ | |
| Leukoencephalopathy-dystonia-motor neuropathy syndrome | SCP2 | LKDMN | ||
| Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome (SEMDHL) | AIFM1 | X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy | SEMDHL | |
| Megalencephalic Leukodystrophy with subcortical Cysts (MLC) | MLC1, HEPACAM, GPRC5B, and AQP4 | Megalencephaly-cystic leukodystrophy syndrome, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap syndrome, Van der Knapp Disease | MLC | https://www.leukonet.org.au/support-and-resources/ https://alextlc.org/condition/megalencephalic-leukodystrophy-with-subcortical-cysts/ |
| Metachromatic Leukodystrophy (MLD) | ARSA or PSAP (rare) | Arylsulfatase A Deficiency, ARSA Deficiency, MLD, Metachromatic Leukoencephalopathy, Diffuse Cerebral Sclerosis Metachromatic Form, Sulfatide Lipidosis, Cerebroside Sulfatase Deficiency | MLD | https://www.leukonet.org.au/support-and-resources/ https://panelapp-aus.org/panels/299/gene/MLC1/ |
| MTHFR Deficiency | MTHFR | https://pubmed.ncbi.nlm.nih.gov/37148062/ | ||
| Mucolipidosis type IV | MCOLN1 https://panelapp-aus.org/panels/299/gene/MCOLN1/ | |||
| Multiple mitochondrial dysfunctions syndrome type 4 | MMDS4 | https://rarediseases.info.nih.gov/diseases/17809/multiple-mitochondrial-dysfunctions-syndrome-4 | ||
| Multiple sulfatase deficiency (MSD) | SUMF1 | General Leukodystrophy & Mitochondrial Leukoencephalopathy ; Juvenile Sulfatidosis €“ Austin Type, MSD, Mucosulfatidosis | MSD | https://www.chop.edu/conditions-diseases/multiple-sulfatase-deficiency-msd https://www.leukonet.org.au/support-and-resources/ |
| Nasu-Hakola disease (NHD) | TREM2 or TYROBP | Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | NHD | |
| Neuronal Intranuclear Inclusion Disease (NIID) | NOTCH2NLC | NIID | https://neurologyopen.bmj.com/content/7/Suppl_1/A17.2 https://pmc.ncbi.nlm.nih.gov/articles/PMC12352206/ https://europepmc.org/article/med/35419641 | |
| NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | ||
| Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | IBA57 | |||
| NOTCH1-Related Leukoencephalopathy | NOTCH1 | https://pmc.ncbi.nlm.nih.gov/articles/PMC10932310/ | ||
| Oculodentodigital Dysplasia with cerebral white matter abnormalities (ODD) | GJA1 | Meyer-Schwickerath syndrome; Oculodentoosseous | ODD | https://alextlc.org/condition/oculodentodigital-dysplasia-with-cerebral-white-matter-abnormalities-odd/ |
| PCWH Syndrome | SOX10 | SOX10-associated PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease | https://medlineplus.gov/genetics/gene/sox10/#conditions | |
| Pelizaeus Merzbacher Disease (X-linked spastic paraplegia) (PMD) | PLP1 | Diffuse familial brain sclerosis, PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type, Hypomyelinating Leukodystrophy 1, HLD1; Hypomyelination of early myelinating structures (HEMS) | PMD | https://www.leukonet.org.au/support-and-resources/ |
| Pelizaeus Merzbacher like-disease (PMLD) | GJC2 | *Hypomyelinating leukodystrophy-2 (HLD2) | PMLD | |
| Peroxisomal acyl-CoA oxidase deficiency | ACOX1 | |||
| POLR3-related disorders (4H) | POLR3A, POLR3B, POLR3K, POLR1C | POLR3-Related Leukodystrophies, 4H syndrome, 4HS, (Leukodystrophy, Hypomyelinating, 7, 8, 11, 21) Hypomyelination, Hypogonadotropic, Hypogonadism and Hypodontia . | POLR3; 4H | https://yayafoundation4hl.org/about-4h-leukodystrophy https://www.leukonet.org.au/support-and-resources/ |
| Pycr2-related microcephaly-progressive leukoencephalopathy | PYCR2 | Hypomyelinating Leukodystrophy 10 | https://pmc.ncbi.nlm.nih.gov/articles/PMC9787162/ | |
| Refsum Disease | PHYH or PEX7 | Refsum Disease, Adult, 1; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneuritiformis; Hereditary Motor And Sensory Neuropathy IV (HMSN4 or HMSN IV) | https://www.leukonet.org.au/support-and-resources/ | |
| Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations | TREX1 | Cerebroretinal Vasculopathy (CRV); Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke (HERNS); Hereditary Systemic Angiopathy (HSA); Hereditary Vascular Retinopathy (HVR); Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL); RVCL-S | RCVL-S | https://www.ncbi.nlm.nih.gov/books/NBK546576/ |
| Salla disease | SLC17A5 | Sialuria Finnish Type; Infantile Sialic Acid Storage Disease (ISSD) and Intermediate form ; Sialic acid storage disorders | https://www.leukonet.org.au/support-and-resources/ | |
| Sjogren-Larsson Syndrome | ALDH3A2 | Ichthyosis spastic neurologic disorder and oligophrenia; Fatty alcohol:nad+ oxidoreductase deficiency; Fatty aldehyde dehydrogenase deficiency; FALDH deficiency | SLS | https://www.leukonet.org.au/support-and-resources/ |
| Vanishing White Matter | EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 | Ovarioleukodystrophy Syndrome; Childhood Ataxia with Central Nervous System Hypomyelination (CACH), CACH syndrome, Leukoencephalopathy with vanishing white matter, Myelinosis centralis diffusa | VWM | https://www.leukonet.org.au/support-and-resources/ |
| Zellweger Spectrum: Zellweger Syndrome | HSD17B4, Or PEX2, PEX5, PEX6, PEX13, PEX14, PEX16, PEX19, PEX26, PEX1, PEX3, PEX10, PEX11B, and PEX12 | Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease , Neonatal Adrenoleukodystrophy (NALD) , Peroxisomal Biogenesis disorders (PBD) D-Bifunctional Protein Deficiency | https://alextlc.org/condition/d-bifunctional-protein-deficiency/ https://www.leukonet.org.au/wp-content/uploads/2023/03/Fact-Sheet-Peroxisomal-Biogenesis-Disorder-%E2%80%93-Zellweger-Spectrum-Disorder-PBD-ZSD.pdf |
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Additional Leukodystrophy Australia Information Sheets
- 4H syndrome: Hypomyelina1on with Hypogonadotropic Hypogonadism and Hypodon1a (also known as Pol III-related Leukodystrophy) Information Sheet
- CADASIL Information Sheet
- Krabbe Disease Information Sheet
- Leukodystrophy Information Sheet
- Leuodystrophy (Adult Onset) Information Sheet
- Pelizaeus-Merzbacher disease (PMD) Information Sheet
- Vanishing White Matter Information Sheet