Very early-onset behavioral variant frontotemporal dementia in a patient with a variant of uncertain significance of a FUS gene mutation.

The behavioral variant of Frontotemporal dementia (bvFTD) has typically a progressive course with cognitive and behavioral changes that manifests between 50 and 70 years. Very early-onset bvFTD with rapid progression is a rare syndrome under the frontotemporal lobar degeneration (FTLD) umbrella that has been associated with a variety of protein deposition and genetic mutations. We present a case of a 24-year-old man who developed behavioral symptoms and progressed with severe cognitive impairment and functional loss within months. Genetic testing identified a variant of uncertain significance (VUS) mutation in the FUS gene.

Systematic review and meta-analysis of Sniffin Sticks Test performance in Parkinson's disease patients in different countries.

INTRODUCTION: Olfaction impairment occurs in about 90% of patients with Parkinson's disease. The Sniffin Sticks Test is a widely used instrument to measure olfactory performance and is divided into three subtests that assess olfactory threshold, discrimination and identification. However, cultural and socioeconomic differences can influence test performance. OBJECTIVES: We performed a systematic review and meta-analysis of the existent data about Sniffin Sticks Test performance of Parkinson's disease patients and healthy controls in different countries and investigated if there are other cofactors which could influence the olfactory test results. A subgroup analysis by country was performed as well as a meta-regression using age, gender and air pollution as covariates. RESULTS: Four hundred and thirty studies were found and 66 articles were included in the meta-analysis. Parkinson's disease patients showed significantly lower scores on the Sniffin Sticks Test and all its subtests than healthy controls. Overall, the heterogeneity among studies was moderate to high as well as the intra-country heterogeneity. The subgroup analysis, stratifying by country, maintained a high residual heterogeneity. CONCLUSION: The meta-regression showed a significant correlation with age and air pollution in a few subtests. A high heterogeneity was found among studies which was not significantly decreased after subgroup analysis by country. This fact signalizes that maybe cultural influence has a small impact on the Sniffin Sticks Test results. Age and air pollution have influence in a few olfactory subtests.

Essential Tremor - Deep Brain Stimulation vs. Focused Ultrasound.

INTRODUCTION: Essential Tremor (ET) is one of the most common tremor syndromes typically presented as action tremor, affecting mainly the upper limbs. In at least 30-50% of patients, tremor interferes with quality of life, does not respond to first-line therapies and/or intolerable adverse effects may occur. Therefore, surgery may be considered. AREAS COVERED: In this review, the authors discuss and compare unilateral ventral intermedius nucleus deep brain stimulation (VIM DBS) and bilateral DBS with Magnetic Resonance-guided Focused Ultrasound (MRgFUS) thalamotomy, which comprises focused acoustic energy generating ablation under real-time MRI guidance. Discussion includes their impact on tremor reduction and their potential complications. Finally, the authors provide their expert opinion. EXPERT OPINION: DBS is adjustable, potentially reversible and allows bilateral treatments; however, it is invasive requires hardware implantation, and has higher surgical risks. Instead, MRgFUS is less invasive, less expensive, and requires no hardware maintenance. Beyond these technical differences, the decision should also involve the patient, family, and caregivers.