Table 2 |.
Differential diagnoses for adulthood leukodystrophies
| Disease | OMIM entries | Gene(s) |
|---|---|---|
| Inherited vasculopathies with white matter involvement | ||
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)22 | 125310 | NOTCH3 |
| Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)93 | 600142 | HTRA1 |
| Brain small vessel disease with or without ocular anomalies94 | 607595 | COL4A1 |
| Fabry disease95 | 301500 | GLA |
| Retinal vasculopathy with cerebral leukodystrophy (RVCL)96 | 192315 | TREX1 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)97 | 221770 | TREM2, TYROBP |
| Inherited CNS diseases with grey and white matter involvement | ||
| Dentatorubral-pallidoluysian atrophy (DRPLA)98 | 125370 | ATN1 |
| Fragile X tremor/ataxia syndrome (FXTAS) 99 | 300623 | FMR1 |
| Inborn errors of metabolism with white matter involvement | ||
| Aspartylglucosaminuria (AGU)100 | 208400 | AGA |
| Methylmalonic aciduria, isovaleric acidaemia and propionic acidaemia101 | 251000 | MUT |
| 243500 | IVD | |
| 606054 | PCCA, PCCB | |
| Disorders of glycoprotein degradation, including α-mannosidosis (MANSA)102, β-mannosidosis (MANSB)103 and neuraminidase deficiency104 | 248500 | MAN2B1 |
| 248510 | MANBA | |
| 256550 | NEU1 | |
| Galactosaemia105 | 230400 | GALT |
| GM1-gangliosidosis, type III106 | 230650 | GLB1 |
| GM2-gangliosidosis, AB variant107 | 272750 | GM2A |
| Hereditary homocystinurias108, such as methylenetetrahydrofolate reductase deficiency109 or cystathionine β-synthase deficiency110 | 236250 | MTHFR |
| 236200 | CBS | |
| Phenylketonuria (PKU)111 | 261600 | PAH |
| Organic acidurias, such as L-2-hydroxyglutaric aciduria (L2HGA)112 or 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD)113 | 236792 | L2HGDH |
| 246450 | HMGCL | |
| Other diseases with white matter involvement | ||
| Wilson disease114 | 277900 | ATP7B |
The table lists a selection of inherited diseases with involvement of CNS white matter that should be considered in the differential diagnosis of adulthood leukodystrophies. OMIM, Online Mendelian Inheritance in Man.