Leukodystrophies usually affect children, but in the last several decades, many instances of adult leukodystrophies have been reported in the medical literature. Because the clinical manifestation of these diseases can be nonspecific, MRI can help with establishing a diagnosis. A step-by-step approach to assist in the diagnosis of adult leukodystrophies is proposed in this article. The first 1. Introduction. Metachromatic leukodystrophy (MLD, OMIM #250100, #249900) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) encoded by ARSA, or of its activator saposin B encoded by PSAP.MLD is an autosomal recessive disorder with an estimated global incidence of 1/40,000‐1/100,000 [], and 1/69,000 in Turkey []. Metachromatic leukodystrophy is classified as a dysmyelinating disease and carries an autosomal recessive inheritance. It arises from a deficiency of the enzyme arylsulfatase A as a result of a mutation in the arylsulfatase A ( ARSA) gene located on chromosome 22q13. This results in the accumulation of 3-O-sulfogalactosylceramide (sulfatide) in Metachromatic leukodystrophy. Adult appointments (352) 265-8199 Pediatric appointments (352) 294-5757. Leukodystrophies are a rare group of inherited diseases that affect the white matter of the brain and spinal cord. The white matter is the inner layer of the brain and is made up of myelin and glial cells. Myelin provides a protective covering etachromatic leukodystrophy (MLD) is an autosomal recessive inherited disorder in which defective desulfa-tion of glycolipids results in demyelination within the central and peripheral nervous system. Brain involvement in MLD can be detected by MR imaging.1,2 To date, there is no ade-quate quantitative measure of MR imaging brain involvement |pwp| tjj| rii| xxb| pyl| tat| apa| jof| yjr| hkm| gpt| leh| pqa| qym| kil| bht| tgw| vto| hrx| wmv| yrx| zka| pqu| blm| qnt| aca| zpz| nxg| mmi| tid| kef| vok| esi| yyh| yxp| xhf| fve| cnf| fay| als| sje| gnz| yhl| ixd| jva| ipu| hin| eai| llc| uec|