overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency.

Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters. Preclinical studies in mice have shown that gene therapy is a promising approach to treat individuals with Friedreich's ataxia. However, a recent report provided evidence that AAVrh10-mediated overexpression of frataxin could lead to cardiotoxicity associated with mitochondrial dysfunction.

An Exploration of the Own-Age Effect on Facial Emotion Recognition in Normal Elderly People and Individuals with the Preclinical and Demented Alzheimer's Disease.

Background: The issue of whether there exists an own-effect on facial recognition in the elderly remains equivocal. Moreover, currently the literature of this issue in pathological aging is little.

Objective: Our study was thus to explore the issue in both of healthy older people and patients with ADMethods:In study 1, 27 older and 31 younger healthy adults were recruited; in study 2, 27 healthy older adults and 80 patients (including subjective cognitive decline (SCD), mild cognitive impairment (MCI), and Alzheimer's disease (AD) groups) were recruited.

The contribution of vascular risk factors in neurodegenerative disorders: from mild cognitive impairment to Alzheimer's disease.

Background: Optimization of vascular risk factor control is emerging as an alternative approach to improve cognitive outcomes in Alzheimer's disease, although its efficacy is still under debate. We aimed to investigate the contribution of vascular risk factors on Alzheimer's biomarkers and conversion rate to dementia in subjects with mild cognitive impairment (MCI) with low cerebral small vessel disease burden.

Methods: Two hundred ninety-five newly diagnosed MCI subjects were enrolled from March 2005 to May 2017 for a cross-sectional assessment of vascular risk factors and Alzheimer's plasma and imaging biomarkers, followed by a cognitive outcome assessment 24 months after enrollment.

The Social Functioning Scale for Alzheimer's Disease: A Short Informant-based Measure of Functional Status in Patients with Alzheimer's Disease in Taiwan.

Objective: Evaluating social-functioning impairments in patients with Alzheimer's disease (AD) objectively is essential for clinical service. However, the existing instruments lack representative content, consensus on purposes of use, and adequate scoring systems and samples. This study was thus to develop a social functioning scale for patients: the Social Functioning Scale for Alzheimer's Disease (SFSAD).

Diminution of context association memory structure in subjects with subjective cognitive decline.

Alzheimer's disease (AD) progresses insidiously from the preclinical stage to dementia. While people with subjective cognitive decline (SCD) have normal cognitive performance, some may be in the preclinical stage of AD. Neurofibrillary tangles appear first in the transentorhinal cortex, followed by the entorhinal cortex in the clinically silent stage of AD.

Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) contributes to endosomal and lysosomal function. LIMP-2 deficiency is associated with neurological abnormalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkinson's diseases. Here we report a crystal structure of a LIMP-2 luminal domain dimer with bound cholesterol and phosphatidylcholine.

Arbitrary and semantic associations in subjective memory impairment and amnestic mild cognitive impairment among Taiwanese individuals: A cross-sectional study.

Background/purpose: Researchers have recently proposed a preclinical stage of dementia of Alzheimer's type (DAT), referred to as subjective memory impairment (SMI), with the aim of developing methods for the early detection of DAT and subsequent intervention. It has been proposed that the objective memory functions of individuals with SMI are normal; however, arbitrary and semantic associations are both used to describe the processes of memory. No previous studies have investigated these processes among individuals with SMI.

Hippocampal atrophy but not white-matter changes predicts the long-term cognitive response to cholinesterase inhibitors in Alzheimer's disease.

Introduction: This study aimed to investigate the feasibility of predicting the long-term effects of cholinesterase inhibitors (ChEI) with common clinical neuroimaging parameters of Alzheimer's disease, including medial temporal lobe atrophy (MTA) and white matter hyperintensity (WMH).

Method: A cohort of 353 patients with very mild to moderate Alzheimer's disease received cholinesterase inhibitors and were followed for a median of 46.6 months.

Temperature-dependent variations in sulfate-reducing communities associated with a terrestrial hydrocarbon seep.

Terrestrial hydrocarbon seeps are an important source of naturally emitted methane over geological time. The exact community compositions responsible for carbon cycling beneath these surface features remain obscure. As sulfate reduction represents an essential process for anoxic organic mineralization, this study collected muddy fluids from a high-temperature hydrocarbon seep in Taiwan and analyzed community structures of sulfate-supplemented sediment slurries incubated anoxically at elevated temperatures.

Distinct Patterns and Clinical Implications of Semantic Memory Deterioration Among Patients With MCI.

Limited research has investigated the effects of executive dysfunction on semantic memory deterioration among patients with amnestic mild cognitive impairment (aMCI). This study examined the cognitive performance of 181 participants from various MCI subgroups, a group of mildly impaired individuals with dementia of the Alzheimer type (DAT) and a group of individuals with subjective memory impairment on various semantic memory tasks. The aMCI-single domain (aMCI-sd) group displayed poor performance on a semantic memory task requiring relatively higher degrees of effortful retrieval, and participants in the aMCI-multiple domain (aMCI-md) group, who also suffered with mild executive dysfunction displayed poor performance on all semantic memory tasks, similar to the DAT group.

Plasma Aβ but not tau is related to brain PiB retention in early Alzheimer's disease.

Recent advances in biomarkers provide the possibility of early or preclinical diagnosis of Alzheimer's pathology. Currently, decreased levels of Aβ-42 and increased levels of tau proteins in cerebral spinal fluid are considered reliable biomarkers of Alzheimer's disease (AD); however, little evidence exists for the use of amyloid and tau protein levels in the plasma as useful biomarkers. We investigated the potential use of plasma biomarkers to diagnose AD and explored their relationships with brain Aβ deposition in amyloid imaging.

Spatial variations of community structures and methane cycling across a transect of Lei-Gong-Hou mud volcanoes in eastern Taiwan.

This study analyzed cored sediments retrieved from sites distributed across a transect of the Lei-Gong-Hou mud volcanoes in eastern Taiwan to uncover the spatial distributions of biogeochemical processes and community assemblages involved in methane cycling. The profiles of methane concentration and carbon isotopic composition revealed various orders of the predominance of specific methane-related metabolisms along depth. At a site proximal to the bubbling pool, the methanogenic zone was sandwiched by the anaerobic methanotrophic zones.

Theory of mind in patients with temporal lobe epilepsy.

Theory of mind (ToM) is a crucial aspect of social cognition and is mediated by a complex neural network. Studies on temporal lobe epilepsy (TLE) suggest that its neuropathological involvement includes several brain regions. Some regions seem to overlap the neural network responsible for ToM, and this overlap provides an opportunity to explore ToM in TLE patients.

Cross-cultural effect on suboptimal effort detection: an example of the Digit Span subtest of the WAIS-III in Taiwan.

Suppressed Digit Span performance has been proposed as an embedded indicator for suboptimal effort detection in neuropsychological evaluations in Western societies, particularly in the USA. However, its effectiveness in Chinese countries remains unexplored. The purposes of this study were first to explore normative Digit Span performance patterns between the Taiwan and American standardization samples, then to examine performances of patients with traumatic brain injury and with psychiatric diseases on the embedded measures (the Digit Span Scaled Score, Vocabulary minus Digit Span difference score, Reliable Digit Span, and the longest string of digits forward and backward) through retrospective data analysis.

Neuropsychological profile in patients with early stage of Parkinson's disease in Taiwan.

Given the importance of early detection and intervention for disease management, determining the vulnerable neuropsychological function in patients with early-stage Parkinson's disease (PD) is a priority. Here, we describe the neuropsychological pattern in early-stage PD patients with mild cognitive impairment (PD-MCI) and dementia (PDD) in Taiwanese population. The neuropsychological performance of 94 patients with PD was compared with that of 84 healthy controls (HCs) and available normative data, using a comprehensive neuropsychological assessment including tests of executive, memory, psychomotor speed, attention, visuospatial, and language functions.

Metabolic stratification driven by surface and subsurface interactions in a terrestrial mud volcano.

Terrestrial mud volcanism represents the prominent surface geological feature, where fluids and hydrocarbons are discharged along deeply rooted structures in tectonically active regimes. Terrestrial mud volcanoes (MVs) directly emit the major gas phase, methane, into the atmosphere, making them important sources of greenhouse gases over geological time. Quantification of methane emission would require detailed insights into the capacity and efficiency of microbial metabolisms either consuming or producing methane in the subsurface, and establishment of the linkage between these methane-related metabolisms and other microbial or abiotic processes.

Rap1gap2 regulates axon outgrowth in olfactory sensory neurons.

Olfactory sensory neurons (OSNs) extend their axons from the nasal epithelium to their odorant receptor-dependent locations in the olfactory bulb. Previous studies have identified several membrane proteins along the projection pathway, and on OSN axons themselves, which regulate this process; however, little is known about the signaling mechanisms through which these factors act. We have identified and characterized Rap1gap2, a novel small GTPase regulator, in OSNs during early postnatal mouse development.

Microbial methane cycling in a terrestrial mud volcano in eastern Taiwan.

Microbial communities responsible for methane cycling in mud volcanoes onshore are poorly characterized. This study analysed bubbling fluids and cored sediments retrieved from a mud volcano in eastern Taiwan. The pore water profiles revealed that methane concentrations generally increased with depth and changed dramatically at different depth intervals at different sites.

Neuropsychological performance and seizure-related risk factors in patients with temporal lobe epilepsy: a retrospective cross-sectional study.

The aim of this study was to identify the neuropsychological features in patients with temporal lobe epilepsy (TLE) and their correlation with seizure-related variables. For this purpose, we carried out a retrospective analysis of data from 65 patients with TLE who had undergone a comprehensive neuropsychological assessment. The results suggest that the majority of patients with TLE were impaired in more than one cognitive domain, and among these patients, the mean proportions with defective semantic memory, language, motor/psychomotor speed, verbal episodic memory, and executive function were >50% each.

Frontotemporal dementia and motor neuron disease: report of 3 cases in Taiwan and literature review.

Purpose: Case reports and a review of literature of the coexistence of motor neuron disease (MND) and frontotemporal dementia (FTD).

Case Report: All three patients demonstrated generalized lower motor neuron signs and very few upper motor neuron signs. In the level of patterns of cognitive impairments, neuropsychological studies do not distinguish between patients with onset of weakness from bulbar palsy and patients with onset of weakness from limbs.

rs5848 variant of progranulin gene is a risk of Alzheimer's disease in the Taiwanese population.

Progranulin is the precursor of granulins, and its downregulation may lead to neurodegeneration. The single-nucleotide polymorphism rs5848 increases the risk of Alzheimer's disease (AD). We explored the association between alleles of rs5848 and the risk of AD in the Taiwanese population.

Emergence of lamina-specific retinal ganglion cell connectivity by axon arbor retraction and synapse elimination.

Throughout the nervous system, neurons restrict their connections to specific depths or "layers" of their targets to constrain the type and number of synapses they make. Despite the importance of lamina-specific synaptic connectivity, the mechanisms that give rise to this feature in mammals remain poorly understood. Here we examined the cellular events underlying the formation of lamina-specific retinal ganglion cell (RGC) axonal projections to the superior colliculus (SC) of the mouse.

Comparison of behavioral and psychological symptoms of Alzheimer's disease among institution residents and memory clinic outpatients.

Background: Behavioral and psychological symptoms of dementia (BPSD) cause caregiver distress and earlier institutionalization. We compared the prevalence and characteristics of BPSD between institution residents and memory clinic outpatients with Alzheimer's disease (AD) to test the hypothesis that there is more BPSD among institution residents than among their outpatient counterparts. We assessed BPSD by interviewing the patients' principal caregivers, either family or professionals, using the Behavioral Pathology in Alzheimer's Disease Rating Scale (BEHAVE-AD).