Linked Life Data

20702129

Source:http://linkedlifedata.com/resource/pubmed/id/20702129

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-10-25
pubmed:abstractText
Perry syndrome is a familial parkinsonism associated with central hypoventilation, mental depression, and weight loss. Previously, this very rare syndrome has been reported in only 7 families worldwide including in one Japanese family. We recently identified an additional family with Perry syndrome with DCTN1 mutation residing in Japan. The pedigree contains 19 family members spanning three generations, with four affected individuals. Affected members with early stage disease in this family presented with marked autonomic dysfunction including orthostatic hypotension and decreased cardiac uptake with [123]I-metaiodobenzylguanidine scintigram features that have not been described in previous cases. Because of central hypoventilation, all affected members need ventilation assistance, which is thought beneficial for prolongation of survival time as well as improving quality of life in this syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1873-5126
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
612-4
pubmed:dateRevised
2011-3-28
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Autonomic failures in Perry syndrome with DCTN1 mutation.
pubmed:affiliation
Department of Neurology, Kokura Memorial Hospital, Fukuoka, Japan.
pubmed:publicationType
Journal Article, Case Reports