[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
No To Hattatsu
; 43(6): 435-42, 2011 Nov.
Article
en Ja
| MEDLINE
| ID: mdl-22180957
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Proteína Proteolipídica de la Mielina
/
Enfermedad de Pelizaeus-Merzbacher
/
Patología Molecular
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
Ja
Revista:
No To Hattatsu
Año:
2011
Tipo del documento:
Article