Rare genetic variants found to increase risk for Tourette syndrome

An international team led by researchers from UCLA and Massachusetts General Hospital has identified the first definitive genes associated with Tourette syndrome, giving scientists a long-sought foothold on the biology of the disease.The report in the June 21 issue of Neuron describes the discovery of rare mutations — either deletions or duplications of genetic material — in two neurodevelopmental genes, NRXN1 and CNTN6, in people with Tourette syndrome, a disorder characterized by multiple chronic, involuntary motor and vocal tics.“This is a first, key step in understanding the role of these genes in the disease process and ultimately in pointing the field toward possible therapeutic strategies,” said Dr. Giovanni Coppola, a professor of psychiatry and neurology at UCLA’s Semel Institute for Neuroscience and Human Behav ior, and the study’s co-senior author. “All of us in the field have been trying to understand which genes increase the risk of disease.”There ’s no cure for Tourette syndrome, and no one medication that is helpful to all people with Tourette syndrome or suppresses all symptoms.Previous research has shown Tourette syndrome has a clear genetic component. But genetic risk appears to be very complex, possibly involving different genes in different individuals. Several small studies have identified genes that appear to contribute to Tourette syndrome risk, Coppola said, but none of them met the statistical thre...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news

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AbstractEndovascular therapy (EVT) trials enrolled ischemic stroke patients with good pre-stroke functional status. However, this information needed for rapid decision-making is commonly lacking in clinical practice. We hypothesized that initial misjudgment of pre-stroke functional status attenuates clinical outcomes of EVT. Data were derived from our prospective registry of ischemic stroke patients undergoing EVT for anterior circulation large vessel occlusion (01/2016 –12/2017). Considering all information accumulated during hospital course, pre-stroke modified Rankin scale (mRS) was independently re-assessed and c...
Source: Journal of Neurology - Category: Neurology Source Type: research
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Source: Journal of Neurology - Category: Neurology Source Type: research
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Source: Journal of Neurology - Category: Neurology Source Type: research
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Source: Journal of Neurology - Category: Neurology Source Type: research
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Source: Psychiatric Services - Category: Psychiatry Tags: Psychiatr Serv Source Type: research
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Source: Journal of the Association of European Psychiatrists - Category: Psychiatry Tags: Eur Psychiatry Source Type: research
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Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
Publication date: Available online 16 July 2019Source: NeuroImageAuthor(s): Elin Eriksson Hagberg, Rochelle Ackerley, Daniel Lundqvist, Justin Schneiderman, Veikko Jousmäki, Johan WessbergAbstractPositive affective touch plays a central role in social and inter-personal interactions. Low-threshold mechanoreceptive afferents, including slowly-conducting C-tactile (CT) afferents found in hairy skin, transmit such signals from gentle touch to the brain. Tactile signals are processed, in part, by the posterior insula, where it is the thought to be the primary target for CTs. We used magnetoencephalography (MEG) to assess ...
Source: NeuroImage - Category: Neuroscience Source Type: research
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Source: Ethnicity and Disease - Category: International Medicine & Public Health Tags: Ethn Dis Source Type: research
Authors: Compagnat M, Daviet JC, Batcho CS, David R, Salle JY, Mandigout S Abstract Objective: To explore the validity of energy expenditure estimates using the SenseWear Armband during a sequence of four daily living activities in patients post-stroke. Method: Patients with stroke who were able to walk during 6 min without human assistance were asked to wear the SenseWear Armband on the non-paretic arm while performing transfers, a manual task, walking, and walking up and down stairs. The energy expenditure estimated using the SenseWear Armband was compared to the energy expenditure calculated from oxygen consumpt...
Source: Brain Injury - Category: Neurology Tags: Brain Inj Source Type: research
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