Ewing sarcoma of the pancreas: a pediatric case report and narrative literature review.

Ewing's Sarcoma (ES) is an rare, small round-cell sarcoma that predominantly occurs in children and young adults, with both skeletal and extraskeletal manifestations. However, pancreatic ES, due to its rarity, is infrequently featured in scholarly literature, with only a scant 43 reported instances. Our study describes a case of pancreatic ES in an 8-year-old boy who was found to have an abdominal mass. Following an exhaustive examination, the boy was diagnosed with a neoplasm in the pancreatic head and underwent a complex surgical procedure encompassing pancreatoduodenectomy and partial transverse colectomy. Immunohistochemical assays confirmed the neoplastic cells' positivity for Cluster of Differentiation 99(CD99), Vimentin, and NK2 Homeobox 2(NKX2.2), while genomic testing identified an EWSR1-FLI1(Ewing Sarcoma Breakpoint Region 1-Friend Leukemia Integration 1) gene fusion. This led to a conclusive diagnosis of pancreatic Ewing's Sarcoma. The patient underwent seven cycles of adjuvant chemotherapy, alternating between VDC (Vincristine, Doxorubicin, Cyclophosphamide) and IE (Ifosfamide, Etoposide) tri-weekly, but did not undergo radiotherapy. At present, the patient remains neoplasm-free. Through our case analysis and comprehensive review of the existing literature, we aim to underscore th rarity of pancreatic Ewing's sarcoma and to highlight the efficacy of our individualized therapeutic approach.

Exploring Alashan Ground Squirrel (Spermophilus alashanicus) Diversity: Metagenomic and Transcriptomic Datasets from the Helan Mountains.

This study investigates the adaptive strategies of the Alashan Ground Squirrel (Spermophilus alashanicus) in response to habitat changes, as rodents are sensitive indicators of ecosystem changes. Despite its ecological importance, the genome and microbiome of this species have not been thoroughly studied. This research fills this gap by presenting the first comprehensive metagenomic and transcriptomic datasets of the species. Transcriptomic data was collected from five tissue types, including heart, liver, cecum, muscle, and blood, resulting in the assembly of 72,156 unigenes. Metagenomic sequencing identified predominant bacterial groups such as Firmicutes, Bacteroidetes, Verrucomicrobia, Urovircota, and Proteobacteria. Our workflow involved RNA and DNA extraction, library preparation, assembly, and annotation, yielding valuable insights into gene discovery, microbial composition, and further genome and microbial function studies. In conclusion, our findings have significant implications for understanding the adaptive mechanisms of this species in response to environmental changes.

Technical Risk Stratification Nomogram Model for 90-Day Mortality Prediction in Patients With Acute Basilar Artery Occlusion Undergoing Endovascular Thrombectomy: A Multicenter Cohort Study.

BACKGROUND: This study aimed to establish and validate a nomogram model for predicting 90-day mortality in patients with acute basilar artery occlusion receiving endovascular thrombectomy. METHODS AND RESULTS: A total of 242 patients with basilar artery occlusion undergoing endovascular thrombectomy were enrolled in our study, in which 172 patients from 3 stroke centers were assigned to the training cohort, and 70 patients from another center were assigned to the validation cohort. Univariate and multivariate logistic regression analyses were adopted to screen prognostic predictors, and those with significance were subjected to establish a nomogram model in the training cohort. The discriminative accuracy, calibration, and clinical usefulness of the nomogram model was verified in the internal and external cohorts. Six variables, including age, baseline National Institutes of Health Stroke Scale score, Posterior Circulation-Alberta Stroke Program Early CT (Computed Tomography) score, Basilar Artery on Computed Tomography Angiography score, recanalization failure, and symptomatic intracranial hemorrhage, were identified as independent predictors of 90-day mortality of patients with basilar artery occlusion and were subjected to develop a nomogram model. The nomogram model exhibited good discrimination, calibration, and clinical usefulness in both the internal and the external cohorts. Additionally, patients were divided into low-, moderate-, and high-risk groups based on the risk-stratified nomogram model. CONCLUSIONS: Our study proposed a novel nomogram model that could effectively predict 90-day mortality of patients with basilar artery occlusion after endovascular thrombectomy and stratify patients with high, moderate, or low risk, which has a potential to facilitate prognostic judgment and clinical management of stroke.

Seasonal Diet Composition of Goitered Gazelle (Gazella subgutturosa) in an Arid and Semi-Arid Region of Western China.

Global climate change, habitat fragmentation, and human interference have resulted in a significant, ongoing decline in the population of goitered gazelles. Effective conservation strategies require an understanding of resource requirements of threatened species, such as dietary needs. Therefore, we aimed to elucidate the food composition and seasonal dietary changes of goitered gazelles through microhistological analyses of fresh feces. Fabaceae (11.5%), Gramineae (9.4%), Chenopodiaceae (20.2%), Asteraceae (10.1%), and Rosaceae (19.5%) formed the primary dietary components of goitered gazelle. Additionally, Krascheninnikovia arborescens (13.4%) and Prunus sibirica (16.3%) were identified as the key forage plants. Forbs (50.4%) were the predominant plants for grazing throughout the year, particularly in the spring (72.9%). The proportion of trees in the diet was highest in the autumn (36.7%) and comparatively lower in other seasons. Furthermore, the proportions of shrubs (22.0%) and graminoids (14.8%) both reached their peaks in the winter. Our findings indicate that goitered gazelles strategically forage seasonally to cope with resource bottlenecks, enhancing their adaptability to arid and semi-arid habitats. Our study provides essential ecological information for the conservation of goitered gazelles and emphasizes the importance of dietary studies of species of ecological significance in environmentally sensitive areas.

First complete mitochondrial genome of the Alashan ground squirrel (Spermophilus alashanicus) (Rodentia: Sciuridae) from Ningxia, China.

The Alashan ground squirrel (Spermophilus alashanicus) is primarily distributed in the regions of Inner Mongolia and Ningxia, China. In this study, we present the first complete mitochondrial genome of S. alashanicus. The genome spans 16,464 base pairs and comprises 13 protein-coding genes, 22 tRNA genes, two rRNA genes, and a single control region with a marked AT bias. The overall GC content is 35.4%. Phylogenetic analyses indicate that S. alashanicus clusters are closely associated with S. dauricus. This comprehensive characterization of the S. alashanicus mitochondrial genome serves as a foundational resource for future studies on mitochondrial evolution, species identification, population genomics, and phylogenetics.

Metabolic regulation reduces the oxidative damage of arid lizards in response to moderate heat events.

Climate warming poses a significant threat to species worldwide, particularly those inhabiting arid and semi-arid regions where extreme temperatures are increasingly prevalent. However, empirical studies investigating how moderate heat events affect the physiological processes of arid and semi-arid animals are largely scarce. To address this knowledge gap, we used an arid and semi-arid lizard species (Phrynocephalus przewalskii) as a study system. We manipulated thermal environments to simulate moderate heat events (43.5 ± 0.3°C during the heating period) for lizards and examined physiological and biochemical traits related to survival, metabolism, locomotion, oxidative stress, and telomere length. We found that the body condition and survival of the lizards were not significantly affected by moderate heat events, despite an increase in body temperature and a decrease in locomotion at high test temperatures were detected. Mechanistically, we found that the lizards exhibited down-regulated metabolic rates and enhanced activities of antioxidative enzymes, resulting in reduced oxidative damage and stable telomere length under moderate heat events. Based on these findings, which indicated a beneficial regulation of fitness by physiological and biochemical processes, we inferred that moderate heat events did not have a detrimental effect on the toad-headed agama, P. przewalskii. Overall, our research contributes to understanding the impacts of moderate heat events on arid and semi-arid species and highlights the adaptive responses and resilience exhibited by the toad-headed agama in the face of climate warming.

Oxidative stress mediates the impact of heatwaves on survival, growth and immune status in a lizard.

Climate change often includes increases in the occurrence of extreme environmental events. Among these, heatwaves affect the pace of life and performance of wildlife, particularly ectothermic animals, owing to their low thermoregulatory abilities. However, the underlying mechanisms by which this occurs remain unclear. Evidence shows that heatwaves alter the redox balance of ectotherms, and oxidative stress is a major mediator of life-history trade-offs. Therefore, oxidative stress may mediate the effect of extreme thermal conditions on the life histories of ectotherms. To test this hypothesis, a 2 × 2 experiment was conducted to manipulate the redox balance (through a mitochondrial uncoupler that alleviates oxidative stress) of the desert toad-headed agama (Phrynocephalus przewalskii) exposed to heatwave conditions. We recorded lizard growth and survival rates and quantified their redox and immune statuses. In control lizards (unmanipulated redox balance), heatwave conditions decreased growth and survival and induced oxidative damage and immune responses. By contrast, lizards with alleviated oxidative stress showed close-to-normal growth, survival, and immune status when challenged with heatwaves. These results provide mechanistic insight into the role of oxidative stress in mediating the effects of extreme temperatures on ectothermic vertebrates, which may have major eco-evolutionary implications.

Simple and Ultrasensitive Detection of Glioma-Related ctDNAs in Mice Serum by SERS-Based Catalytic Hairpin Assembly Signal Amplification Coupled with Magnetic Aggregation.

Purpose: Circulating tumor DNA (ctDNA) is more representative and accurate than biopsy and is also conducive to dynamic monitoring, facilitating accurate diagnosis and prognosis of glioma. Therefore, the present study aimed to establish and validate a novel amplified method for the detection of IDH1 R132H and BRAF V600E, which were associated with the genetic diagnosis of glioma. Patients and Methods: A dual-signal amplification method based on magnetic aggregation and catalytic hairpin assembly (CHA) was constructed for the simultaneous detection of ctDNAs. When target ctDNAs are present, the CHA reaction is initiated and leads to the assembly of Au-Ag nanoshuttles (Au-Ag NSs) onto magnetic beads (MBs). Further enrichment of MBs under an external magnetic field facilitated the dual-signal amplification of SERS. Results: The limit of detection (LOD) for IDH1 R132H and BRAF V600E in serum was as low as 6.01 aM and 5.48 aM. The reproducibility and selectivity of the proposed SERS analysis platform was satisfactory. Finally, the platform was applied to quantify IDH1 R132H and BRAF V600E in the serum of subcutaneous-tumor­bearing nude mice, and the results obtained by SERS were consistent with those from quantitative real-time polymerase chain reaction (qRT-PCR). Conclusion: The present study showed that the dual-signal amplification method is a simple and ultrasensitive strategy for gliomas-associated ctDNAs detection, which is crucial for early diagnosis and dynamic monitoring.

Altitudinal variation in life-history features of a Qinghai-Tibetan Plateau lizard.

Environmental changes along an altitudinal gradient can facilitate the differentiation of life-history features in ectothermic species, but little attention has been devoted to the reciprocal influence of altitude and alpine slope directionality on life-history variation. According to life-history theory, increased environmental stress causes a change in reproductive allocation from number to quality of offspring, as well as a stronger trade-off between size and number of offspring. To clarify the influence of environmental pressures on the life-history features of the Qinghai toad-headed lizard Phrynocephalus vlangalii along an altitudinal cline, we surveyed late pregnant females from 3 populations of low (2,600 m), middle (3,400 m), and high (3,600 m) elevations in the Dangjin Mountain of Gansu, China from July to October 2019, and compared their inter-population differences in maternal body size, reproductive characteristics, offspring growth, and locomotor performance. Because of lower temperatures, higher humidity, and lower light intensity caused by slope aspect and altitude, the middle-altitude region experienced stronger environmental stress than the high- and low-altitude regions. Our results showed that females were larger at middle- and high-altitude sites and smaller at the low-altitude site, following Bergmann's rule. We also found that females from low-altitude population gave birth earlier than those from the middle and high altitudes. Our results showed a shift in the offspring size-number trade-off of P. vlangalii in response to colder and harsher environments, with lizards from the alpine steppe (i.e. the middle- and high-altitude habitats) producing fewer but larger offspring than those from the warm steppe (i.e. the low-altitude habitat). Low-altitude juveniles grew faster than high-altitude ones, but at the same rates as middle-altitude juveniles. This result demonstrates that the growth of P. vlangalii was associated with temperature and light intensity. Our findings contribute to enhancing our understanding of the altitudinal variation in life-history features of plateau ectotherms and their phenotypic plasticity or local adaptation.

Telomere length, oxidative stress and their links with growth and survival in a lizard facing climate warming.

Higher temperatures enhance ectothermic metabolism and development, which can reduce individual health and life expectancy, and therefore increase their vulnerability to climate warming. However, the mechanistic causes and consequences of such a temperature-driven impact remain unclear. Our study aimed to address two questions: (1) does climate warming alter early-life growth and physiology, and, if so, what are the associated carry-over effects in terms of reduced survival, increased oxidative stress and telomere shortening? (2) can oxidative stress and telomere dynamics at early life stages predict the effect of climate warming on individual survival? To answer these questions, we conducted a longitudinal experiment under semi-natural conditions where we exposed multiocellated racerunner (Eremias multiocellata) to warming conditions from juvenile to adult stages. We found that exposure to climate warming enhanced growth rates, induced oxidative stress, and shortened telomere length of juvenile lizards. Warming conditions did not induce carry-over effects in terms of altered growth rate or physiology but resulted in increased mortality risk in the later life. Intriguingly, telomere shortening in young individuals was associated with mortality risk later in life. This study improves our mechanistic understanding of how global warming impacts on ectotherms' life-history traits, which encourages the inclusion of physiological information in assessing species vulnerability to climate change.

Distribution update of water deer (Hydropotes inermis) and prediction of their potential distribution in Northeast China.

Human interventions have a great potential of spatially cornering and limiting species, therefore investigating the species distribution is one of the most crucial issues for managing wildlife populations and suggesting robust conservation strategies. Water deer (Hydropotes inermis) are widespread in China throughout history and are endemic to East Asia. However, they disappeared from Northeast China for years. We rediscovered the water deer in a previous study in Jilin Province, China. Then, we conducted further research in Northeast China to determine their distribution status, supplying fundamental data for the recovery and expansion of their population. An interview survey, line transect survey and infrared camera monitoring were carried out in some counties/cities in Northeast China from June to December 2021. The results showed that the water deer were distributed in Wuchang city of Heilongjiang Province, Changbai Korean Autonomous County, Baishan Municipal District, Ji'an city, Hunchun city, Huadian city, Antu County and Helong County of Jilin Province, Benxi Manchu Autonomous County, Huanren Manchu Autonomous County, Kuandian Manchu Autonomous County, Fengcheng city and Donggang city of Liaoning Province. The ensemble species distribution model constructed by sdm within the TSS of various models that were set as weight revealed that the potential distribution area of the water deer in the study area was 8764.66 km2 (28.77% of the study area). Combining recent studies concerning the distribution of water deer and the current study, we updated the distribution of wild water deer in Northeast China, which is vital for their conservation worldwide.

The Effect of Sexes and Seasons on the Morphological Structures of the Ruminant Digestive System of Blue Sheep (Pseudois nayaur).

Constant adaptation to environmental changes is required by ruminants to allow them to adapt to different ecological niches and feeding habits. In addition, the morphology and function of ruminant digestive systems reveal some adaptive evolutionary characteristics. Blue sheep (Pseudois nayaur) display a variety of morpho-physiological adaptations that are typical of grazers. In this study, we collected 64 adult blue sheep samples (whole animal carcasses) from the Helan Mountains, China, during different seasons. The external morphological parameters, digestive system morphological indexes, and rumen surface enlargement factors were determined. Our results reveal that the rumen and reticulum weights were positively correlated with the body weight (p = 0.004), while the food channel aperture, intestinal length, and weight of the blue sheep digestive tract presented no significant differences between different seasons (p > 0.05) and sexes (p > 0.05). There were significant differences (p < 0.001) in the density, length, and width of mastoids, and the rumen surface enlargement factor was 2.85 ± 1.37, which is typical of roughage feeders. The nutritional and ecological characteristics of blue sheep represent obvious morphological and physiological adaptations to an herbivorous diet. Adopting a quick foraging strategy allows blue sheep to rapidly consume and excrete large amounts of feed, thus obtaining the required energy for their activities and facilitating better adaption to environmental changes.

Time and Influencing Factors to Chronic Subdural Hematoma Resolution After Middle Meningeal Artery Embolization.

OBJECTIVE: We sought to describe the resolution time of chronic subdural hematoma (CSDH) after middle meningeal artery embolization (MMAE) and potential variables that may affect hematoma resolution. METHODS: A retrospective analysis was performed on CSDH patients between December 2018 and December 2021. Patient characteristics, radiologic manifestations, and data of hematoma resolution were recorded. Univariate and multivariate analyses were conducted to identify predictors of CSDH resolution time. RESULTS: A total of 53 patients were enrolled including 53 hematomas. Only 1 participant relapsed and did not require surgical evacuation. Hematoma resolution was observed in 27 (50.9%) at 4 months and 48 (90.6%) cases at the last radiologic follow-up. The median MMAE-to-resolution time was 19 weeks (interquartile range: 8-24). The burr-hole irrigation + MMAE group showed faster hematoma resolution than MMAE alone during early follow-up periods, but no significant difference was found at 6 months. Increased thickness of residual hematoma, excessive postoperative midline shift, high-density hematoma, mixed-density hematoma, separated hematoma, and anticoagulant or antiplatelet agents used were predictive of nonresolution at 4 months as determined by univariate analysis, whereas anticoagulant or antiplatelet agents used and high-density hematoma were not significant on multivariate analysis. No significant association was noted between hematoma resolution and comorbidities or other hematoma radiologic features. CONCLUSIONS: MMAE is an effective and minimally invasive treatment for CSDH with a lower recurrence rate. The median resolution time of CSDH following MMAE was 19 weeks (interquartile range: 8-24). Burr-hole irrigation contributed to early hematoma resolution but had no significant effect at 6 months. In addition, residual hematoma thickness, postoperative midline shift, and specific type of hematoma were associated with delayed hematoma resolution at 4 months.

Growth Stages and Inter-Species Gut Microbiota Composition and Function in Captive Red Deer (Cervus elaphus alxaicus) and Blue Sheep (Pseudois nayaur).

Blue sheep and red deer, second-class key protected animals in China, are sympatric species with a high degree of overlap of food resources in the Helan Mountains, China. Previous studies with blue sheep and red deer in nature have shown that their physiology is closely related to their gut microbiota. However, growth stages and changes occurring in these species in captivity are still unknown. Thus, 16S rRNA gene sequencing was used to explore diversity, composition and function of the gut microbiota in these two animal species. The diversity and structure of the gut microbiota in captive blue sheep and red deer changed at different growth stages, but the dominant microbiota phyla in the gut microbiota remained stable, which was composed of the phyla Firmicutes, Bacteroidetes and Verrucomicrobia. Moreover, gut microbiota diversity in juvenile blue sheep and red deer was low, with the potential for further colonization. Functional predictions showed differences such as red deer transcription being enriched in adults, and blue sheep adults having a higher cell wall/membrane/envelope biogenesis than juveniles. Microbial changes between blue sheep and red deer at different growth stages and between species mainly depend on the abundance of the microbiota, rather than the increase and absence of the bacterial taxa.

The complete mitochondrial genome of the Siberian Rubythroat (Calliope calliope) from Maorshan, China.

The Siberian Rubythroat (Calliope calliope), a shy and cautious passerine bird, is widely distributed throughout Siberia, Asia, and Europe. In this study, the complete mitogenome of the Siberian Rubythroat samples collected in Heilongjiang, China, was sequenced. The whole length of the complete mitochondrial genome is 16,840 bp, consisting of 13 protein-coding genes, 22 tRNA genes, two rRNA genes, and one control region. Only one overlapping gene was found among the 13 protein-coding genes (ND4L/ND4). The length of the control region is 1068 bp. The nucleotide composition is 29.32% A, 23.05% T, 14.80% G, and 32.82% C. Phylogenetic analysis indicated a close genetic relationship between C. calliope and Luscinia cynaura.

The complete mitochondrial genome of the Brambling Fringilla montifringilla (Passeriformes: Fringillidae) from Maor Mountain, China.

The Brambling (Fringilla montifringilla) (Linnaeus 1758) is a member of the Passeriformes family of birds and primarily feeds on grass seeds and grains. Muscle tissue was collected from birds sampled from Moar Mountain, China, and the complete mitochondrial genome was sequenced. Its mitochondrial genome consists of 13 protein-coding genes (PCGs), 2 rRNA genes (12S rRNA and 16S rRNA), 22 tRNA genes, and 1 control region (CR). The genome comprises 30.30% A, 23.32% T, 14.31% G, and 32.07% C bases. Phylogenetically, F. montifringilla is closely related to the Fringilla coelebs, Fringilla teydea teydea and Fringilla polatzeki.

Application of double-stent assisted coil embolization in intracranial vertebral artery dissecting aneurysms with mass effect.

BACKGROUND: Unruptured intracranial vertebral artery dissecting aneurysms (IVADAs) with mass effect have an extremely poor natural course, and treatment of these aneurysms remains a challenge for endovascular and surgical strategies. The aim of this study was to analyze the role of double-stent-assisted coil embolization in preventing rupture and bleeding of intracranial vertebral artery dissecting aneurysm with brainstem compression by reducing mass effect and preventing the recurrence of the aneurysm. METHODS: A total of 25 patients (mean age, 56.04±13.0 years) with unruptured IVADAs with mass effect received dual-stent-assisted coil embolization. The baseline characteristics, the change of aneurysm size on MR, the rate of retreatment, and the improvement rate of clinical symptoms and signs were analyzed retrospectively. RESULTS: All patients completed the surgical procedures successfully. No aneurysm bleeding or perforating artery occlusion occurred during the perioperative and follow-up periods. The initial maximum diameter of the aneurysm on MR was 17.5±3.6 mm. One year after treatment, the maximum diameter of the aneurysm on MR was 15.8±4.9 mm. The reduction rate of the maximum diameter of the aneurysm was 10.7±12.7%. The change of the maximum diameter before and after treatment of aneurysm was statistically significant (P<0.001). In terms of the improvement rate of clinical symptoms, 15 cases were completely improved (60.0%), 6 cases were partially improved (24.0%), and the total clinical improvement rate was 84%. Four cases (16.0%) showed no improvement or even had aggravation of clinical symptoms. In 5 cases (20.0%), aneurysms recurred. Among 4 cases involving posterior inferior cerebellar artery origin, 3 cases had the recurrence (75%). 5 recurred cases were treated with single-stent-assisted coil embolization. No residual aneurysm and recurrence were found on the follow-up angiography. CONCLUSIONS: The double-stent-assisted coil embolization procedure is very safe and reliable. It can effectively prevent the aneurysm from continuing to grow and rupture and thereby reduce the clinical symptoms caused by the mass effect.

Impacts of the Wild Boar (Sus scrofa) on the Livelihood of Rural Communities in Pakistan and Understanding Public Attitudes towards Wild Boars.

Conservation goals can only be best achieved when there is firm support and cooperation from locals, especially in emerging economies where poor communities often bear most of the cost of human-wildlife conflicts (HWCs). In this study, we explored the economic losses caused by wild boars in two districts, i.e., the Peshawar district and the Nowshera district, in north-western Pakistan. Between May and June 2022, 589 respondents from 53 villages were interviewed. The results revealed that the wild boar was chiefly involved in crop raiding, causing an annual economic loss of USD 12,030 (USD 20.42/household). The highly raided crops included maize (40.24%), followed by wheat (24.95%), vegetables (22.65%), and sugarcane (6.29%). Wild boars were also held accountable for orchard damages. Most people consider the wild boar a common species in the area and want it completely eliminated. We believe that the increasing wild boar population is alarming and should be noticed. The government should collaborate with the local communities to use innovative methods to deter wild boars. Compensation schemes for crop damages should be launched. Moreover, the regular investigation of the wild boar population size and their carrying capacities should be enlisted as integral parts of wildlife management in the area.

The complete mitochondrial genome of the Yellow-rumped Flycatcher (Ficedula zanthopygia) from Maorshan, China.

The Yellow-rumped Flycatcher (Ficedula zanthopygia) is a secondary cavity nesting bird and widely distributed in China, Mongolia, Russia and Korea. In this study firstly sequenced the mitotic genome of the Yellow-rumped Flycatcher (Ficedula zanthopygia) gathered at Maorshan, China, using Illumina high-throughput sequencing technology, and then annotated the assembly. The total length of the complete mitochondrial genome is 16,730 bp and it consists of 13 protein-coding, 22 tRNA, 2 rRNA genes, and 1 control region (CR). The CR is 1148 bp in length. The nucleotide composition is 29.59% A, 14.75% T, 32.13% G, 23.54% C. The result of phylogenetic analysis showed that there is close genetic relationship among Ficedula zanthopygia and Ficedula hyperythra.

Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1.

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia. Oculomotor apraxia (OMA)has been reported to be a feature often, although not exclusively, associated with AOA1. The Aprataxin gene, APTX, is ubiquitously expressed, and numerous APTX mutations are associated with different clinical phenotypes have been found. In the present study, we enrolled a 14-year-old boy who developed ataxia with staggering gait from the age of 4 years. Early-onset cerebellar ataxia, peripheral axonal neuropathy, cognitive impairment and hypoalbuminemia, hypercholesterolemia were presented in this patient, except for OMA. We applied ataxia-related genes filtering strategies and whole-exome sequencing (WES) to discover the genetic factors in a Chinese family. Sanger sequencing was used in the co segregation analysis in the family members. A compound heterozygous mutation in APTX gene (c.739C>T and c.501dupG) was identified. This is the first description of a genetically confirmed patient of AOA1 in a Chinese family in addition to a novel mutation of c.501dupG in APTX.