Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.

Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.

Wearable and battery-free wound dressing system for wireless and early sepsis diagnosis.

Sepsis is a severe organ dysfunction typically caused by wound infection which leads to septic shock, organ failure or even death if no early diagnosis and property medical treatment were taken. Herein, we report a soft, wearable and battery-free wound dressing system (WDS) for wireless and real-time monitoring of wound condition and sepsis-related biomarker (procalcitonin [PCT]) in wound exudate for early sepsis detection. The battery-free WDS powered by near-field communication enables wireless data transmission, signal processing and power supply, which allows portable intelligent wound caring.

Wireless, battery-free, multifunctional integrated bioelectronics for respiratory pathogens monitoring and severity evaluation.

The rapid diagnosis of respiratory virus infection through breath and blow remains challenging. Here we develop a wireless, battery-free, multifunctional pathogenic infection diagnosis system (PIDS) for diagnosing SARS-CoV-2 infection and symptom severity by blow and breath within 110 s and 350 s, respectively. The accuracies reach to 100% and 92% for evaluating the infection and symptom severity of 42 participants, respectively.

Soft, miniaturized, wireless olfactory interface for virtual reality.

Recent advances in virtual reality (VR) technologies accelerate the creation of a flawless 3D virtual world to provide frontier social platform for human. Equally important to traditional visual, auditory and tactile sensations, olfaction exerts both physiological and psychological influences on humans. Here, we report a concept of skin-interfaced olfactory feedback systems with wirelessly, programmable capabilities based on arrays of flexible and miniaturized odor generators (OGs) for olfactory VR applications.

Ultrathin, Soft, Bioresorbable Organic Electrochemical Transistors for Transient Spatiotemporal Mapping of Brain Activity.

A critical challenge lies in the development of the next-generation neural interface, in mechanically tissue-compatible fashion, that offer accurate, transient recording electrophysiological (EP) information and autonomous degradation after stable operation. Here, an ultrathin, lightweight, soft and multichannel neural interface is presented based on organic-electrochemical-transistor-(OECT)-based network, with capabilities of continuous high-fidelity mapping of neural signals and biosafety active degrading after performing functions. Such platform yields a high spatiotemporal resolution of 1.

Intelligent Soft Sweat Sensors for the Simultaneous Healthcare Monitoring and Safety Warning.

Intelligent monitoring human physiological information in real time raises the demand for skin-integrated electronics, as which is a flexible format and can be mounted onto the curved human skin for noninvasive healthcare monitoring. The biofluid such as sweat from skin contains abundant biomarkers reflecting body health conditions. Here, a skin-integrated sweat monitor with six biosensors embedded for the detection of NH , Na , glucose, pH, skin impedance, and surface temperature is described, which could decode the information in the fresh sweat generated during exercising.

Touch IoT enabled by wireless self-sensing and haptic-reproducing electronic skin.

Tactile sensations are mainly transmitted to each other by physical touch. Wireless touch perception could be a revolution for us to interact with the world. Here, we report a wireless self-sensing and haptic-reproducing electronic skin (e-skin) to realize noncontact touch communications.

Implantable Electronic Medicine Enabled by Bioresorbable Microneedles for Wireless Electrotherapy and Drug Delivery.

A combined treatment using medication and electrostimulation increases its effectiveness in comparison with one treatment alone. However, the organic integration of two strategies in one miniaturized system for practical usage has seldom been reported. This article reports an implantable electronic medicine based on bioresorbable microneedle devices that is activated wirelessly for electrostimulation and sustainable delivery of anti-inflammatory drugs.

Transient, Implantable, Ultrathin Biofuel Cells Enabled by Laser-Induced Graphene and Gold Nanoparticles Composite.

Transient power sources with excellent biocompatibility and bioresorablility have attracted significant attention. Here, we report high-performance, transient glucose enzymatic biofuel cells (TEBFCs) based on the laser-induced graphene (LIG)/gold nanoparticles (Au NPs) composite electrodes. Such LIG electrodes can be easily fabricated from polyimide (PI) with an infrared CO laser and exhibit a low impedance (16 Ω).

A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.

Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotemporal lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). The cause of FTLD-FET is not well understood and there is a lack of genetic evidence to aid in the investigation of mechanisms of the disease.

Thin, soft, 3D printing enabled crosstalk minimized triboelectric nanogenerator arrays for tactile sensing.

With the requirements of self-powering sensors in flexible electronics, wearable triboelectric nanogenerators (TENGs) have attracted great attention due to their advantages of excellent electrical outputs and low-cost processing routes. The crosstalk effect between adjacent sensing units in TENGs significantly limits the pixel density of sensor arrays. Here, we present a skin-integrated, flexible TENG sensor array with 100 sensing units in an overall size of 7.

Stretchable Sweat-Activated Battery in Skin-Integrated Electronics for Continuous Wireless Sweat Monitoring.

Wearable electronics have attracted extensive attentions over the past few years for their potential applications in health monitoring based on continuous data collection and real-time wireless transmission, which highlights the importance of portable powering technologies. Batteries are the most used power source for wearable electronics, but unfortunately, they consist of hazardous materials and are bulky, which limit their incorporation into the state-of-art skin-integrated electronics. Sweat-activated biocompatible batteries offer a new powering strategy for skin-like electronics.

High Channel Temperature Mapping Electronics in a Thin, Soft, Wireless Format for Non-Invasive Body Thermal Analysis.

Hemodynamic status has been perceived as an important diagnostic value as fundamental physiological health conditions, including decisive signs of fatal diseases like arteriosclerosis, can be diagnosed by monitoring it. Currently, the conventional hemodynamic monitoring methods highly rely on imaging techniques requiring inconveniently large numbers of operation procedures and equipment for mapping and with a high risk of radiation exposure. Herein, an ultra-thin, noninvasive, and flexible electronic skin (e-skin) hemodynamic monitoring system based on the thermal properties of blood vessels underneath the epidermis that can be portably attached to the skin for operation is introduced.

Novel Variant Associated With Familial Frontotemporal Dementia.

Objective: Despite the strong genetic component of frontotemporal dementia (FTD), a substantial proportion of patients remain genetically unresolved. We performed an in-depth study of a family with an autosomal dominant form of FTD to investigate the underlying genetic cause.

Methods: Following clinical and pathologic characterization of the family, genetic studies included haplotype sharing analysis and exome sequencing.

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.

Frontotemporal dementia (FTD) presents with a wide variability in clinical syndromes, genetic etiologies, and underlying pathologies. Despite the discovery of pathogenic variants in several genes, many familial cases remain unsolved. In a large FTD cohort of 198 familial patients, we aimed to determine the types and frequencies of variants in genes related to FTD.

LRP10 variants in Parkinson's disease and dementia with Lewy bodies in the South-West of the Netherlands.

Objective: To analyse LRP10 variants, recently associated with the development of Parkinson's disease (PD), Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB), in a series of patients and controls from the South-West of the Netherlands (Walcheren).

Methods: A series of 130 patients with PD, PDD or DLB were clinically examined, and a structured questionnaire used to collect information about family history of PD and dementia. The entire LRP10 coding region was sequenced by Sanger methods in all patients, and haplotype analysis was performed for one recurrent LRP10 variant.

Genetic screening in early-onset Alzheimer's disease identified three novel presenilin mutations.

Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD). Clinical heterogeneity is frequently observed in patients with PSEN1 and PSEN2 mutations. Using whole exome sequencing, we screened a Dutch cohort of 68 patients with EOAD for rare variants in Mendelian Alzheimer's disease, frontotemporal dementia, and prion disease genes.

Hippocampal transcriptome profiling combined with protein-protein interaction analysis elucidates Alzheimer's disease pathways and genes.

Knowledge about the molecular mechanisms driving Alzheimer's disease (AD) is still limited. To learn more about AD biology, we performed whole transcriptome sequencing on the hippocampus of 20 AD cases and 10 age- and sex-matched cognitively healthy controls. We observed 2716 differentially expressed genes, of which 48% replicated in a second data set of 84 AD cases and 33 controls.

EIF2AK3 variants in Dutch patients with Alzheimer's disease.

Next-generation sequencing has contributed to our understanding of the genetics of Alzheimer's disease (AD) and has explained a substantial part of the missing heritability of familial AD. We sequenced 19 exomes from 8 Dutch families with a high AD burden and identified EIF2AK3, encoding for protein kinase RNA-like endoplasmic reticulum kinase (PERK), as a candidate gene. Gene-based burden analysis in a Dutch AD exome cohort containing 547 cases and 1070 controls showed a significant association of EIF2AK3 with AD (OR 1.

Three VCP Mutations in Patients with Frontotemporal Dementia.

Valosin-containing protein (VCP) is involved in multiple cellular activities. Mutations in VCP lead to heterogeneous clinical presentations including inclusion body myopathy with Paget's disease of the bone, frontotemporal dementia and amyotrophic lateral sclerosis, even in patients carrying the same mutation. We screened a cohort of 48 patients with familial frontotemporal dementia (FTD) negative for MAPT, GRN, and C9orf72 mutations for other known FTD genes by using whole exome sequencing.

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

Accumulating evidence suggests that genetic variants in the SORL1 gene are associated with Alzheimer disease (AD), but a strategy to identify which variants are pathogenic is lacking. In a discovery sample of 115 SORL1 variants detected in 1908 Dutch AD cases and controls, we identified the variant characteristics associated with SORL1 variant pathogenicity. Findings were replicated in an independent sample of 103 SORL1 variants detected in 3193 AD cases and controls.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Objectives: We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.

Methods: The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, were evaluated.

Results: The most frequent phenotype was a behavioral variant frontotemporal dementia (bvFTD), but a significant proportion (40%) of our patients had semantic (svFTD) or nonfluent variants (nfvFTD) at onset; and svFTD was significantly more frequent in TARDBP carriers than in other FTD genotypes (p < 0.