LogoBeta Software
Open Drug Discovery Intelligence
     
searchSearch Scibite.com

Targets, Diseases & Drug Names All News
SCIBITE NEWS:

Dystonia in Costello syndrome
Thu Apr 19 17:05:50 BST 2012
Key Topics

Click on any of the topic names to view its own newsletter. The text we matched to the topic is shown in grey underneath.

 Dystonia  

[matched:dystonic, dystonia]

Other Topics Mentioned

Less relevant than those above but listed here for convenience.


 Congenital Abnormalities  

[matched:congenital anomaly]

Altmetric Article Ranking
Altmetric is a new way of monitoring impact of journal articles across social media, provided by altmetric.com. Click on the badge to see more information about this article from Altmetric.

   
: Costello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) gene. Recent studies seem to support apparent autosomal dominant inheritance and somatic mosaicism and an association with advanced parental age. Abnormal hand posture has been reported as a typical feature of Costello Syndrome but the pathophysiology of this is unclear. METHODS: We evaluated and described posture and movement in six consecutive subjects with genetically proven Costello Syndrome, in order to better characterize the phenomenology of the associated postural abnormalities and any related motor abnormalities. We also evaluated motor cortex plasticity by applying Paired Associative Stimulation. RESULTS: All the patients presented the typical postural abnormalities reported in Costello Syndrome, in particular the ulnar deviation of fingers. The latter was reducible and not fixed. In addition, patients exhibited more explicit dystonic features of the face, limbs and trunk and altered sensorimotor plasticity consistent with generalized dystonia. CONCLUSIONS: These findings suggest that dystonia may underlie the abnormal postures described in Costello Syndrome patients;   Read more on this story here

Source: ncbi.nlm.nih.gov   (view original)
Inst: Department of Neurosciences, Universita Cattolica, L.go A. Gemelli 8, 00168 Rome, Italy.
   abstracted provided by MEDLINE/PubMed, a database of the U.S. National Library of Medicine.

Summary Loaded