A diagnostic checklist of leukodystrophies and other genetic metabolic leukoencephalopathies

The following Table is meant to help neurologists and neuroradiologists in the diagnosis of a leukodystrophy or leukoencephalopathy suspected to be of genetic origin. We have tried to classify the large number of possible causes according to different criteria:-Basic pathogenetic mechanism (lysosomal, peroxisomal, or other molecular defects)-Recognizable neuroradiological criteria (hypomyelination, cysts, calcifications, or other deformities)-Characteristic non-neurological findings (such as bone or skin anomalies)-Miscellaneous genetic disorders. The table includes a few conditions that, from a neurological point of view, are not leukodystrophy-like but in which white matter changes may stimulate diagnostic thoughts. The columns of the table contain the designation of the disorders and, where appropriate, their OMIM number [1], their mode of inheritance with incidence figures where available, the age at onset of symptoms, and suggestive findings from the medical history and clinical examination. Neuroradiological findings are restricted to prominent and helpful MRI features, with complementary findings of MR spectroscopy when important. For a comprehensive description of MR findings in myelin disorders, see, e.g. reference [2]. A further column lists basic defects and useful diagnostic tests. The references cited are thought to complement standard texts, e.g. [3].