Showing 1 - 6 of 6 results filtered by
Synonyms: globoid cell leukodystrophy, globoid cell leukoencephalopathy, galactosylceramide lipidosis, galactosylceramidase (GALC) deficiency This is an autosomal recessive leukodystrophy....
Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [ 1 ] It is one of a group of gene-linked disorders known as the leukodystrophies...
Most of the diseases previously classified as Schilder's disease are now classified as dysmyelinating leukodystrophies or are included within the spectrum of multiple sclerosis. Schilder&...
Aspartic acid - Canavan's disease: This is an autosomal recessive condition characterised by spongy degeneration of white matter of the brain, leading to a severe form of leukodystrophy...
Clinical history and investigations should look for toxic, metabolic and immune diseases, paraneoplastic disorders, malformations, posterior fossa tumours, multiple sclerosis and leukodystrophies...
Spinocerebellar degeneration. Leukodystrophies. Neuroaxonal dystrophy. Lennox-Gastaut syndrome . Angelman's syndrome .