Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

“…12 Multiple case series describing the genotypic spectrum of relatively common and clinically recognisable disorders like metachromatic leukodystrophy (67 families), 32,33 megalencephalic leukoencephalopathy with subcortical cysts (39 families) 34 and Tay-Sachs disease (28 families) 35 have been published. Multiple case reports describe individuals with hypomyelination with hypodontia and hypogonadotropic hypogonadism, 36 Krabbe disease, 37 Alexander disease, 38 vanishing white matter disease, 39 Canavan disease, 40 leukoencephalopathy with brainstem and spinal cord involvement, 41 glutaric aciduria, 42 GM1 gangliosidosis, 43 Coats plus syndrome, 44 ribose 5-phosphate isomerase deficiency, 45 TUB4A1 related hypomyelinating leukodystrophy, 46 homocystinuria due to MTHFR deficiency 47 and adult onset disorders like cerebral autosomaldominant arteriopathy with subcortical infarcts (CADASIL), 48 CARASIL, 49 diffuse hereditary leukoencephalopathy with spheroids 50 and X-linked adrenoleukodystrophy. [51][52][53] Rare disorders with CNS WMAs like LYRM7 related mitochondrial complex III deficiency with cavitation leukoencephalopathy 53 and SLC33A1 related Huppke-Brendel syndrome with hypomyelination and cerebellar hypoplasia 54 have also been reported.…”