Linked Life Data

20490930

Source:http://linkedlifedata.com/resource/pubmed/id/20490930

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-7-14
pubmed:abstractText
The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summarized in Part 1. Insights gained from several observational studies are discussed. Prospective studies of the natural history of most neuronopathic LSDs have been hampered by the rarity of these conditions and the short survival of affected patients. Increasingly, longitudinal observations relating to neurological manifestations are being reported. Better clinical studies are necessary, including repeated measurements of disease progression to facilitate the development of sensitive scoring systems and appropriate counseling of affected individuals and their families. Ideally, clinical studies should involve a large cohort. As treatment becomes available, knowledge of disease expression and factors that influence the phenotype may enable critical assessment of therapeutic outcomes. It is hoped that increased familiarity with the clinical expression of individual LSDs will allow early diagnosis, so families at risk are given options to consider during future pregnancies. Early diagnosis also permits the introduction of timely intervention, to favoring improved outcome in cases that are potentially treatable.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1573-2665
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
315-29
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Clinical aspects of neuropathic lysosomal storage disorders.
pubmed:affiliation
Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2350, 90035-903, Porto Alegre, Brazil. ljardim@hcpa.ufrgs.br
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't