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[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
- Source :
-
No to hattatsu = Brain and development [No To Hattatsu] 2011 Nov; Vol. 43 (6), pp. 435-42. - Publication Year :
- 2011
-
Abstract
- 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.
- Subjects :
- Chaperonin 60 genetics
Chromosomes, Human, Pair 18 genetics
Connexins genetics
Diagnosis, Differential
Humans
Intracellular Signaling Peptides and Proteins genetics
Magnetic Resonance Imaging
Membrane Proteins genetics
Mitochondrial Proteins genetics
Monocarboxylic Acid Transporters genetics
SOXE Transcription Factors genetics
Symporters
Charcot-Marie-Tooth Disease classification
Charcot-Marie-Tooth Disease diagnosis
Charcot-Marie-Tooth Disease genetics
Mutation
Myelin Proteolipid Protein genetics
Pathology, Molecular
Pelizaeus-Merzbacher Disease classification
Pelizaeus-Merzbacher Disease diagnosis
Pelizaeus-Merzbacher Disease genetics
Subjects
Details
- Language :
- Japanese
- ISSN :
- 0029-0831
- Volume :
- 43
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- No to hattatsu = Brain and development
- Publication Type :
- Academic Journal
- Accession number :
- 22180957