Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor.

Essential tremor (ET) is one of the most common movement disorders, affecting nearly 5% of individuals over 65 years old. Despite this, few genetic risk loci for ET have been identified. Recent advances in pharmacogenomics have previously been useful to identify disease related molecular targets.

A case of incidental STUMP discovery in a patient with concurrent prostatic adenocarcinoma.

Stromal tumours of the prostate are exceedingly rare, often presenting in patients in their fifth decade of life. They are classified as either stromal sarcomas, or stromal tumours of uncertain malignant potential (STUMP), the latter of which is known to have diverse clinical behaviour and thus surgical excision is often warranted. We present a case of a 71-year-old male, initially worked up by his family doctor due to mild obstructive voiding symptoms.

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.

Importance: Essential tremor (ET) is one of the most common movement disorders, affecting 5% of the general population older than 65 years. Common variants are thought to contribute toward susceptibility to ET, but no variants have been robustly identified.

Objective: To identify common genetic factors associated with risk of ET.

Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis.

Cognitive impairment is a core feature of schizophrenia which precedes the onset of full psychotic symptoms, even in the ultra-high-risk stage (UHR). Polygenic risk scores (PRS) can be computed for many psychiatric disorders and phenotyping traits, including scores for resilience. We explored the correlations between several PRS and neurocognition in UHR individuals.

Exome-wide rare variant analysis in familial essential tremor.

Introduction: Essential tremor (ET) is one of the most common movement disorders. Despite its high prevalence and heritability, its genetic etiology remains elusive with only a few susceptibility genes identified and poorly replicated. Our aim was to find novel candidate genes involved in ET predisposition through whole exome sequencing.