"hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)"
"leukoencephalopathy due to autosomal recessive mutations in the mitochondrial alanyl-transfer RNA (tRNA) synthetase gene (AARS2-L)"
"CSF1R-related leukoencephalopathy (adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP))"
Expected headings
"Common and/or typical leukodystrophies"
"Genetically determined diseases of white matter"
"Leukodystrophies are a heterogeneous group of disorders that primarily affect the white matter of the central nervous system. They are particularly encountered in childhood as many are genetically determined and represent abnormalities in white matter metabolism. A number of leukodystrophies can also, or rarely exclusively, present in adulthood; see adult-onset leukodystrophies."
"There are, however, a far larger number of conditions that are sometimes included in lists of leukodystrophies or more broadly genetically determined white matter disorders. These are presented below in the "Genetically-determined diseases of white matter"."
"There are very many genetically determined diseases that affect white matter and whether or not they are considered to be true leukodystrophies varies widely from publication to publication. Below is a classification adapted from one proposed in 2017 by van der Knaap and Bugiani 8 and divides these genetically determined conditions according to what component of the white matter is primarily targeted. Naturally, this is merely one of many possible classifications and does not include all conditions that could be included in such a classification."
"The specific imaging features encountered vary widely between conditions and in some instances between individuals with the same condition. They are, therefore, discussed separately. There are, however, certain important concepts that are worth considering when reviewing imaging of an individual who possibly has a leukodystrophy, and these are presented below."
"GM1 and GM2 gangliosidoses (e.g. Tay Sachs disease)"
"free sialic acid storage disorders (e.g. Salla disease)"
"regional involvement: many leukodystrophies have a characteristic predilection for certain regions (e.g. X-linked adrenoleukodystrophy most commonly involves the occipitoparietal white matter)"
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