Postural tremor and sexual chromosome aneuploidies: case report and review of literature.

Purpose: To examine the link between tremor and sex chromosome abnormalities, emphasizing the necessity of comprehensive physical examination.

Case Description: An 18-year-old man exhibited an isolated action tremor in both hands. Despite having no familial history of tremors and no identifiable secondary causes, his tall stature and learning difficulties suggested a genetic origin.

Home calligraphic exercises as manual dexterity training in patients with Parkinson's disease: a pilot feasibility study.

Purpose: To assess the feasibility and effects on manual dexterity and the quality of life (QoL) of a 12-week home calligraphic training program in patients with Parkinson's disease (PD).

Methods: A pilot study with participants recruited from the Movement Disorders consultation at the Hospital 12 de Octubre (Madrid). The main outcome, manual dexterity, was assessed using the Purdue Pegboard Test (PPT).

Differences in Striatal Metabolism in [F]FDG PET in Parkinson's Disease and Atypical Parkinsonism.

Neurodegenerative parkinsonisms affect mainly cognitive and motor functions and are syndromes of overlapping symptoms and clinical manifestations such as tremor, rigidness, and bradykinesia. These include idiopathic Parkinson's disease (PD) and the atypical parkinsonisms, namely progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), multiple system atrophy (MSA) and dementia with Lewy body (DLB). Differences in the striatal metabolism among these syndromes are evaluated using [F]FDG PET, caused by alterations to the dopaminergic activity and neuronal loss.

Physical activity and risk of Parkinson's disease and parkinsonism in a prospective population-based study (NEDICES).

To investigate whether physical activity (PA) is a protective factor for the incidence of Parkinson's disease (PD) and parkinsonism after three years of follow-up. All participants of this study were obtained from the Neurological Disorders in Central Spain (NEDICES), a prospective population-based cohort survey of older subjects (≥65 years) that comprised 5278 census-based participants at baseline (1994-1995). A modified version of Rosow-Breslau questionnaire was applied to categorize PA into active versus sedentary group.

Expanding the clinical and genetic spectrum of -related disorders in family with personality disorder and frontotemporal dementia.

-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p.

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused predominantly by pathogenic variants in NOTCH3 gene. Neither germline nor somatic mosaicism has been previously published in NOTCH3 gene. CADASIL is inherited in an autosomal dominant manner; only rare cases have been associated with de novo pathogenic variants.

Acute hypokinetic-rigid syndrome following SARS-CoV-2 infection.

Objective: To report a case of a patient infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who acutely developed a hypokinetic-rigid syndrome.

Methods: Patient data were obtained from medical records from the Hospital Universitario 12 de Octubre in Madrid, Spain. [I]-ioflupane dopamine transporter (DaT) SPECT images were acquired 4 hours after a single dose of 185 MBq of I-FP-CIT.

Generalized myoclonus in COVID-19.

Objective: To report 3 patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed generalized myoclonus.

Methods: Patient data were obtained from medical records from the University Hospital "12 de Octubre," Madrid, Spain.

Results: Three patients (2 men and 1 woman, aged 63-88 years) presented with mild hypersomnia and generalized myoclonus following the onset of the so-called inflammatory phase of coronavirus disease 2019 (COVID-19).

Miller Fisher syndrome and polyneuritis cranialis in COVID-19.

Objective: To report 2 patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who presented acutely with Miller Fisher syndrome and polyneuritis cranialis, respectively.

Methods: Patient data were obtained from medical records from the University Hospital "Príncipe de Asturias," Alcalá de Henares, and the University Hospital "12 de Octubre," Madrid, Spain.

Results: A 50-year-old man presented with anosmia, ageusia, right internuclear ophthalmoparesis, right fascicular oculomotor palsy, ataxia, areflexia, albuminocytologic dissociation, and positive testing for anti-GD1b-immunoglobulin G antibody.

Mechanical vibration does not systematically reduce the tremor in essential tremor patients.

Essential tremor (ET) is a major cause of disability and is not effectively managed in half of the patients. We investigated whether mechanical vibration could reduce tremor in ET by selectively recruiting afferent pathways. We used piezoelectric actuators to deliver vibratory stimuli to the hand and forearm during long trials (4 min), while we monitored the tremor using inertial sensors.

Smartwatch for the analysis of rest tremor in patients with Parkinson's disease.

Wearable technology used in Parkinson's disease (PD) research has become an increasing focus of interest in this field. Our group assessed the feasibility, clinical correlation, reliability, and acceptance of smartwatches in order to quantify arm resting tremors in PD patients. An Android application on a smartwatch was used to obtain raw data from the smartwatch's gyroscopes.

Improvement of mouse controlling in Essential tremor by a tremor filter: A case report.

The interaction with electronic devices is crucial in our technological society. Hand kinetic tremor complicates mouse driving in Essential tremor patients. To solve this issue some technological solutions are available and accessible online.

Essential tremor quantification based on the combined use of a smartphone and a smartwatch: The NetMD study.

Background: The use of wearable technology is an emerging field of research in movement disorders. This paper introduces a clinical study to evaluate the feasibility, clinical correlation and reliability of using a system based in smartwatches to quantify tremor in essential tremor (ET) patients and check its acceptance as clinical monitoring tool.

New Method: The system is based on a commercial smartwatch and an Android smartphone.