Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported. All three structures of the olivocerebellar motor circuitry have been linked to Essential Tremor. We postulated that genes enriched for their expression in the olivocerebellar circuitry would be more susceptible to harbor mutations in Essential Tremor patients. A list of 11 candidate genes, enriched for their expression in the olivocerebellar circuitry, was assessed for their variation spectrum and frequency in a cohort of Canadian Essential Tremor cases. Our results from this list of 11 candidate genes do not support an association for Essential Tremor in our cohort of Canadian cases. The heterogenic nature of ET and modest size of the cohort used in this study are two confounding factors that could explain these results.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12035-018-1369-1DOI Listing

Publication Analysis

Top Keywords

essential tremor
24
cohort canadian
12
olivocerebellar motor
8
motor circuitry
8
canadian essential
8
tremor cases
8
genes enriched
8
enriched expression
8
expression olivocerebellar
8
olivocerebellar circuitry
8

Similar Publications

Purpose: Essential tremor (ET) is a prevalent movement disorder, yet current therapeutic options remain limited. Emerging evidence implicates leucine-rich repeat and immunoglobulin-like domain-containing protein (Lingo-1) and neuroinflammation in the pathophysiology of ET. This study aimed to investigate whether agmatine, a biogenic amine neuromodulator attenuates tremors and modulates the expression of Lingo-1 and proinflammatory markers in a rodent model of ET.

View Article and Find Full Text PDF

Objective: Our aim was to research the neuromelanin-sensitive magnetic resonance imaging (NM-MRI) features of the locus coeruleus (LC) in essential tremor (ET) patients of various cognitive states and to explore the relationships between these features and cognition.

Methods: We recruited three groups of participants, including 30 ET patients with mild cognitive impairment (ET-MCI), 57 ET patients with normal cognition (ET-NC), and 105 healthy controls (HCs). All participants underwent MRI scanning and clinical evaluation.

View Article and Find Full Text PDF

Neurodegenerative tauopathies are characterized by the deposition of distinct fibrillar tau assemblies, whose rigid core structures correlate with defined neuropathological phenotypes. Essential tremor (ET) is a progressive neurological disorder that, in some cases, is associated with cognitive impairment and tau accumulation. In this study, we explored tau assembly conformation in ET patients with tau pathology using cytometry-based tau biosensor assays.

View Article and Find Full Text PDF

The complexities in the differential diagnosis of restless legs syndrome (Willis-ekbom disease).

Expert Rev Neurother

January 2025

Basic and Clinical Neuroscience department, The Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Introduction: We present a literature review on the clinical conundrums surrounding the differential diagnosis of restless legs syndrome (RLS, Willis Ekbom disease), as well as conditions that can mimic RLS. An extensive literature search showed that secondary causes of RLS ranged from commonly recognized causes, such as iron deficiency anemia, to less widely noted causes, such as rheumatoid disorders and hypothyroidism. There is a controversial association with Parkinson's disease, essential tremor and RLS, whereby RLS is proposed as a prodromal feature.

View Article and Find Full Text PDF

Many clinical, neuroimaging, neuropathological, epidemiological, and genetic data suggest a relationship between essential tremor (ET) and Parkinson's disease (PD). Several hypothesis-based gene association studies attempted to find a genetic association between these diseases. Recent case-control association studies in Chinese and Spanish populations showed a marginal association between the rs1922452 and rs951818 single nucleotide variants (SNVs) and the risk of PD.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!