Cerebellar Ataxia Diagnosis Aided by Exome Sequencing
Clinical exome sequencing (CES) in patients with adult and sporadic-onset presentations of chronic progressive cerebellar ataxia is a high-yield test and should be considered in the routine genetic evaluation of all such patients, regardless of family ...
Medscape - Wed, 08 Oct 2014 16:15



Harrogate invention poised to transform lives of unpaid carers worldwide
Joan said: One of my biggest worries when my son is out and about is his balance coordination which can be severely affected by his cerebellar ataxia. I can see the trip/fall sensor on App4care being really useful in allowing me to relax a bit more and ...
Harrogate News - Mon, 20 Oct 2014 10:15

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome ...
BRAT1 at 7p22.3 encodes BRCA1-associated ATM (ataxia telangiectasia mutated) activator 1, which binds to both the tumor suppressing BRCA1 protein and ATM protein, and has important roles in sensing of DNA damaged lesions.1,2 Recently, homozygous ...
Nature.com - Wed, 15 Oct 2014 23:53



UPDATES: Fundraiser aids family of ailing girl
Brianna has cerebellar ataxia. Justin Zamudio. Justin Zamudio/Standard-Times Brezi Venne (left to right), Mercy Jaramillo and Julie Delizo stand at the front of the crowd before the 1-mile walk/run of Shannon Medical Center's Pink Ribbon Run on Saturday.
San Angelo Standard Times - Sun, 05 Oct 2014 21:18

Concert Pharmaceuticals Presents Positive Data from Multiple Dose Phase 1 ...
Dr. Tung added, “CTP-354 was designed to avoid dose-limiting sedation and ataxia, which currently limit the broader use of other GABAA receptor modulators such as benzodiazepines. This trial provides evidence that CTP-354 can achieve high plasma ...
MarketWatch - Mon, 13 Oct 2014 09:07

Balloons launch at sunrise on festival's final day
Her husband Ben has progressive cerebellar ataxia, a rare neurological disorder that damages cells in the part of the brain that controls muscle coordination. He had to be admitted to the hospital with a high fever, which broke that morning, to her ...
Glens Falls Post-Star - Sun, 21 Sep 2014 06:21

Cerebral embolic protection led to fewer brain lesions in TAVR patients
In the per-protocol population, there were fewer cases of ataxia at 2 days in the filter group compared with the control group (9% vs. 24%; RR=1.559; 95% CI, 1.083-2.214; OR=3.2), as well as a trend toward fewer cases of any neurological symptom at 2 ...
Healio - Fri, 03 Oct 2014 06:52



Midlife Migraine Linked to Later Parkinson's
"Our finding linking migraine with different indicators of parkinsonism suggests shared cerebral vulnerability that could reflect common pathology, genetic or environmental risk factors, or changes in the brain from one condition that increases the ...
Medscape - Wed, 17 Sep 2014 14:14


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Última atualização: Setembro 2014