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High frequency of GBA gene mutations in

High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.

IMPORTANCE Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB). These mutations are common among Ashkenazi Jews (AJ) and appear to have an effect on the natural history of the disease. DOWNLOAD THE PDF FILE TO READ MORE


Differential changes in visual and auditory event-related oscillations in dementia with Lewy bodies

Aside from the cognitive impairment, patients with dementia with Lewy bodies (DLB) have a high frequency of visual hallucinations and a number of other vision-related symptoms, whereas auditory hallucinations are less frequent. DOWNLOAD THE PDF FILE TO READ MORE

Dopamine and performance in a reinforcem

Dopamine and performance in a reinforcement learning task: evidence from Parkinson's disease.

The role dopamine plays in decision-making has important theoretical, empirical and clinical implications. Here, we examined its precise contribution by exploiting the lesion deficit model afforded by Parkinson’s disease. DOWNLOAD THE PDF FILE TO READ MORE


Distinguishing Dementia With Lewy Bodies From Alzheimer Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?

Cognitive deficits beyond memory impairment, such as those affecting language production or executive functioning, can be useful in clinically distinguishing between dementia syndromes. DOWNLOAD THE PDF FILE TO READ MORE

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Dopamine enhances expectation of pleasure in humans

Human action is strongly influenced by expectations of pleasure. Making decisions, ranging from which products to buy to which job offer to accept, requires an estimation of how good (or bad) the likely outcomes will make us feel [1]. Yet, little is known about the biological basis of subjective estimations of future hedonic reactions. READ MORE

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Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease

Background: GBA variants are the most common genetic risk factors for Parkinson's disease (PD) world-wide, and can be found in up to 20% of Ashkenazi PD patients. The E326K variant, which is not considered a Gaucher's disease causing mutation, was recently shown to increase the risk for PD. READ MORE

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A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype

Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. READ MORE

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Deep brain stimulation of the subthalamic nucleus modulates sensitivity to decision outcome value in

Deep brain stimulation (DBS) of the subthalamic nucleus in Parkinson's disease is known to cause a subtle but important adverse impact on behaviour, with impulsivity its most widely reported manifestation. READ MORE

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Experience and choice shape expected aversive outcomes

The value assigned to aversive events is susceptible to contextual influences. Here, we asked whether a change in the valuation of negative events is reflected in an altered neuronal representation of their expected aversive outcome. READ MORE

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The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews

ackground: Glucocerebrosidase (GBA) gene mutations and APOE polymorphisms are common in dementia with Lewy bodies (DLB), however their clinical impact is only partially elucidated.

Objective: To explore the clinical impact of mutations in the GBA gene and APOE polymorphisms separately and in combination, in a cohort of Ashkenazi Jewish (AJ) patients with DLB....READ MORE 

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Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene

Objective: Mutations in the glucocerebrosidase (GBA) gene are divided into mild and severe (mGBA, sGBA) based on their contribution to the phenotype of Gaucher disease (GD) among homozygotes. We conducted a longitudinal analysis of Parkinson's disease (PD) patients carrying mutations in the GBA gene to better characterize genotype-phenotype correlations. READ MORE

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Dissociation in awareness of memory and language decline in Alzheimer's disease

The aim of this study was to examine awareness of decline in memory and in language in individuals with Alzheimer's disease (AD), by comparing participant and informant ratings, as well as these ratings and actual test performance. READ MORE

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Dopamine, affordance and active inference

The role of dopamine in behavior and decision-making is often cast in terms of reinforcement learning and optimal decision theory. Here, we present an alternative view that frames the physiology of dopamine in terms of Bayes-optimal behavior. READ MORE

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The effect of motivation on movement: a study of bradykinesia in Parkinson's disease

Background: Bradykinesia is a cardinal feature of Parkinson's disease (PD). Despite its disabling impact, the precise cause of this symptom remains elusive. Recent thinking suggests that bradykinesia may be more than simply a manifestation of motor slowness, and may in part reflect a specific deficit in the operation of motivational... READ MORE

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Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, Wood NW, Bhatia KP.

J Neurol. 2013 Feb;260(2):656-60. doi: 10.1007/s00415-012-6747-4. Epub 2012 Nov 24.

PMID: 23180180 Free PMC article. No abstract available


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Dopamine, time, and impulsivity in humans

Disordered dopamine neurotransmission is implicated in mediating impulsiveness across a range of behaviors and disorders including addiction, compulsive gambling, attention-deficit/hyperactivity disorder, and dopamine dysregulation syndrome. READ MORE

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Pneumonia: are we putting the CURB score into practice?

Owen D, Shiner T, Sivakumar R, Dent R, Hilton C.

BMJ. 2006 May 20;332(7551):1213. doi: 10.1136/bmj.332.7551.1213-a.

PMID: 16710006 Free PMC article. No abstract available.


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