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Specific types of leukodystrophy include the following with their respective ICD-10 codes when available: [citation needed] (E75.2) Alexander disease (E75.2) Canavan disease (E75.2) Hypomyelinating leukodystrophy type 7 (4H syndrome) (E75.2) Krabbe disease (E75.2) Metachromatic leukodystrophy (E75.2) Pelizaeus–Merzbacher disease
Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD). [3] In addition to white matter disease, Nasu-Hakola causes bone ...
Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) [1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease.
Krabbe disease (KD) (also known as globoid cell leukodystrophy [3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.
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Metachromatic leukodystrophy has an autosomal recessive pattern of inheritance. MLD has an autosomal recessive inheritance pattern. The inheritance probabilities per birth are as follows: [8] If both parents are carriers: 25% (1 in 4) of children will have the disease; 50% (2 in 4) of children will be carriers, but unaffected
The disease is one in a group of genetic disorders collectively known as leukodystrophies that affect the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the central nervous system. The several forms of Pelizaeus–Merzbacher disease include classic, congenital, transitional, and adult variants. [5]