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.
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http://dx.doi.org/10.1007/s12035-018-1369-1 | DOI Listing |
Brain Behav
January 2025
Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
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 PDFCNS Neurosci Ther
January 2025
Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
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.
Acta Neuropathol
January 2025
Center for Alzheimer's and Neurodegenerative Diseases, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
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 PDFExpert 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 PDFInt J Mol Sci
December 2024
Section of Neurology, Hospital Universitario del Sureste, 28500 Arganda del Rey, Spain.
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.
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