Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders
Inoue, K.; Iwaki, A.; Kurosawa, K.; Takanashi, J.-i.; Deguchi, K.; Yamamoto, T.; Osaka, H.
No to Hattatsu 43(6): 435-442
2011
ISSN/ISBN: 0029-0831 PMID: 22180957 Document Number: 653695
Congenital cerebral hypomyelination includes a group of genetic disorders, such as Pelizaeus-Merzbacher disease (PMD), and is characterized by hypomyelination of the cerebral white matter. Until recently, no classification system was available for congenital hypomyelination disorders that are clinically and genetically excluded for PMD. However, the establishment of new disease entities with gene discoveries has generated a clinical need for a new classification and diagnostic criteria for this group of disorders. Here, we review the recent findings on congenital cerebral hypomyelination, which includes 11 diseases, with a novel disease classification and diagnostic criteria with flow charts.