Linked Life Data

18033048

Source:http://linkedlifedata.com/resource/pubmed/id/18033048

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2007-11-22
pubmed:abstractText
We report a case of FXTAS in a 58-year-old man who presented with postural tremor, mild ataxia and dysexecutive cognitive signs. The syndrome had a slow progressive course. Brain imaging by MRI showed characteristic abnormalities with mild cerebellar atrophy, symmetric high signals in the middle cerebellar peduncles and in the subcortical white matter of cerebral hemispheres. The diagnosis was confirmed by molecular genetics showing by southern blot a 100-120 expansion repeat of the CGG trinucleotide. FXTAS is a recently described syndrome, still unknown by most neurologists and probably rather frequent in men older than 60. We emphasize the value of clinical evaluation and brain imaging by MRI in some patients presenting with non specific motor or cognitive symptoms. A diagnosis of FXTAS may have implications for genetic counselling of female relatives.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0035-3787
pubmed:author
pubmed:issnType
Print
pubmed:volume
163
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1091-5
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
[Fragile X premutation presenting as postural tremor and ataxia (FXTAS syndrome)].
pubmed:affiliation
Service de Neurologie, Centre Hospitalier Victor-Dupouy, Argenteuil. patrick.davous@ch-argenteuil.fr
pubmed:publicationType
Journal Article, English Abstract, Case Reports