Linked Life Data

9014427

Source:http://linkedlifedata.com/resource/pubmed/id/9014427

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-3-26
pubmed:abstractText
We present the clinical characteristics of autosomal recessive form of juvenile parkinsonism(AR-JP) (MIM 600116) and the result of the linkage analysis using 11 markers on the long arm of chromosome 6. We examined 25 patients of 13 Japanese AR-JP families. They showed female predominance, mean age at onset at 24.4 +/- 10.3 years, slow progression, good response to levodopa and frequent occurrence of wearing-off phenomenon and dopa-induced dyskinesia. Compared to Parkinson's disease(PD), the parkinsonian triad(tremor, rigidity and bradykinesia) were mild, but dystonic posture, postural instability and hyperreflexia were more prominent compared to PD. By the linkage analysis, we obtained a strong evidence for linkage of the AR-JP gene to a 17 cM region of chromosome 6q25.2-27 including the Mn-superoxide dismutase gene(SOD2) with a maximal cumulative multipoint lod score of 9.44 at 0.9 cM telomeric to D6S253.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0047-1852
pubmed:author
pubmed:issnType
Print
pubmed:volume
55
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
83-8
pubmed:dateRevised
2011-7-27
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].
pubmed:affiliation
Department of Neurology, Niigata University.
pubmed:publicationType
Journal Article, English Abstract, Review