Linked Life Data

10480212

Source:http://linkedlifedata.com/resource/pubmed/id/10480212

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-11-4
pubmed:abstractText
Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive disease of infantile onset, characterised by progressive clinical course, multi-systemic involvement and widespread presence of dystrophic axons in both the central and peripheral nervous system. Clinical, neurophysiological and neuroradiological criteria of the disease are established, but the occurrence of atypical cases is known. Since the availability of molecular markers is still lacking, diagnostic evidence in vivo is provided by the presence of specific axonal lesions distally in the peripheral nerve fibres. In two children who had a protracted course of the disease with dystonic postures of the upper limbs and showed dystrophic axons following sural nerve biopsy, bilateral pallidal hypointensity was observed after T2-weighted MRI scans. These findings are consistent with iron deposition, and are usually observed in Hallervorden-Spatz syndrome (HSS), a condition which is also characterised by dystrophic axons diffusely present in the central nervous system, but without peripheral nervous system involvement. These observations raise the issue of different phenotypes of INAD, and are consistent with the existence of intermediate forms between INAD and HSS. Altered mechanisms of iron storage and transport to and from the cellular compartments may play a role in the pathogenesis of the disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
151-4
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Neuroaxonal dystrophy with dystonia and pallidal involvement.
pubmed:affiliation
Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't