Linked Life Data

2370559

Source:http://linkedlifedata.com/resource/pubmed/id/2370559

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1990-8-23
pubmed:abstractText
A neurodegenerative disease is reported in 5 related families, belonging to a Dutch genetic isolate. Seven children (5 females, 2 males) had microcephaly, spastic pareses, severe extrapyramidal dyskinesia and failure to acquire any voluntary skills. Four died during childhood. Marked pontocerebellar hypoplasia and progressive cerebral atrophy were found by computed tomography of the brain. Autopsy in one case revealed widespread, progressive loss of neurons affecting the olivopontoneocerebellar system more severely than any other part of the brain, accounting for the macroscopic pontocerebellar hypoplasia. A neocortical biopsy from another patient indicated that rough endoplasmic reticulum in neurons as the earliest ultrastructural target of the pathological process. This study confirms the disease as an inherited neuronal degeneration with very early, probably prenatal onset.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
97
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
25-42
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset.
pubmed:affiliation
Division of Paediatric Neurology, University Hospital Amsterdam, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports