Biomaterial Database

[Pelizaeus-Merzbacher disease]. 2001

T Fukuda, and H Sugie

Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D020371	Pelizaeus-Merzbacher Disease	A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)	Cockayne-Pelizaeus-Merzbacher Disease,Adult Pelizaeus-Merzbacher Disease,Atypical Pelizaeus-Merzbacher Disease,Classic Pelizaeus-Merzbacher Disease,Leukodystrophy, Hypomyelinating, 1,Pelizaeus-Merzbacher Brain Sclerosis,Pelizaeus-Merzbacher Disease, Adult,Pelizaeus-Merzbacher Disease, Atypical,Pelizaeus-Merzbacher Disease, Classic,Pelizaeus-Merzbacher Disease, Transitional,Pelizaeus-Merzbacher Sclerosis, Brain,Transitional Pelizaeus-Merzbacher Disease,Adult Pelizaeus Merzbacher Disease,Atypical Pelizaeus Merzbacher Disease,Brain Pelizaeus-Merzbacher Sclerosis,Brain Sclerosis, Pelizaeus-Merzbacher,Classic Pelizaeus Merzbacher Disease,Cockayne Pelizaeus Merzbacher Disease,Pelizaeus Merzbacher Brain Sclerosis,Pelizaeus Merzbacher Disease,Pelizaeus Merzbacher Disease, Adult,Pelizaeus Merzbacher Disease, Atypical,Pelizaeus Merzbacher Disease, Classic,Pelizaeus Merzbacher Disease, Transitional,Pelizaeus Merzbacher Sclerosis, Brain,Transitional Pelizaeus Merzbacher Disease