Table 2.
Clinical and imaging features of hereditary non-vascular leukoencephalopathy in our cohort
| Clinical characteristics of hereditary non-vascular leukoencephalopathy | |
|---|---|
| Psychiatric symptoms | ALD, CblC disease, NIID, AARS2-L, ALSP, VWMD |
| Cognitive impairment | ALD, CblC disease, NIID, AARS2-L, ALSP, VWMD |
| Early prominent ataxia | CTX, Alexander’s disease, Pol-III-related disorders, GHS, ALD, LBSL, ALSP, VWMD |
| Palatal myoclonus | Alexander’s disease |
| Peripheral neuropathy | ALD, Krabbe disease, CTX, CMT-X, CblC disease, MTHFR deficiency, NIID, LBSL, mitochondrial disease, HSP |
| Autonomic symptoms | ADLD, NIID |
| Myopathy | DM1, LGMDR23, mitochondrial disease, AARS2-L, NIID |
| Rapid deterioration following head trauma | ALD, VWMD |
| Optic nerve atrophy | ALD, LBSL, AARS2-L, mitochondrial disease, VWMD, DM1 |
| Cataract | CTX, DM1 |
| Oligodontia | Pol-III-related disorders |
| Adrenocortical insufficiency | ALD |
| Premature ovarian failure | VWMD, AARS2-L |
| Hypogonadotrophic hypogonadism | GHS, Pol-III-related disorders |
| Tendon xanthoma | CTX |
| Imaging characteristics of hereditary non-vascular leukoencephalopathy | |
| Corpus callosum involvement | ALSP, VWMD, AARS2-L, HSP (SPG11, SPG15, SPG7), ADLD, NIID |
| Abnormal signal along pyramidal tract | Krabbe disease, Pol-III-related disorders |
| Spinal cord and brainstem involvement | Alexander’s disease, LBSL |
| Cerebellar dentate nucleus | CTX, ALD |
| Cerebellar vermis | NIID |
| Middle cerebellar peduncles | NIID, LKPAT, ALD, LBSL, VWMD |
| Cystic degeneration | VWMD |
| Punctate calcification | ALSP, ALD |
| Contrast enhancement | ALD |
| Deep white matter diffusion dots | ALSP, AARS2-L, LBSL |
| High signals along the corticomedullary junction on DWI | NIID |
| Transient and reversible white matter lesions | CMT-X |
AARS2-L = AARS2-related leukodystrophy; ADLD = adult-onset autosomal dominant leukodystrophy; CblC = methylmalonic aciduria and homocystinuria cblC type; CMT-X = X-linked Charcot–Marie–Tooth; CTX = cerebrotendinous xanthomatosis; DM1 = myotonic dystrophy type1; DWI = diffusion weighted imaging; GHS = Gordon Holmes syndrome; HSP = hereditary spastic paraplegia; LBSL = leukoencephalopathy with brainstem and spinal cord involvement with elevated lactate; LGMDR23 = autosomal recessive limb-girdle muscular dystrophy-23; LKPAT = leukoencephalopathy with ataxia; MTHFR deficiency = methylenetetrahydrofolate reductase deficiency; SPG = spastic paraplegia.