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The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia

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Neural Regeneration Research 2014年第10期9卷 1068-1074页

作者： Jinxiang Huang Aiyu Lin Haiyan Dong Chaodong Wang Department of Neurosurgery Changzheng Hospitalthe Second Military Medical University Department of Neurology the First Affiliated HospitalFujian Medical University Department of Neurology the Affiliated Sanming First HospitalFujian Medical University

The human glutamate receptor delta 2 gene （GRID2） shares 90%homology with the orthologous mouse gene. The mouse Grid2 gene is involved with functions of the cerebellum and sponta-neous mutation of Grid2 leads to a spinocerebellar ataxia-like phenotype. To investigate whether such mutations occur in humans, we screened for mutations in the coding sequence of GRID2 in 24 patients with familial or sporadic spinocerebellar ataxia and in 52 normal controls. We de-tected no point mutations or insertion/deletion mutations in the 16 exons of GRID2. However, a polymorphic 4 nucleotide deletion （IVS5-121_-118 GAGT） and two single nucleotide polymor-phisms （c.1251G〉T and IVS14-63C〉G） were identiifed. The frequency of these polymorphisms was similar between spinocerebellar ataxia patients and normal controls. These data indicate that spontaneous mutations do not occur in GRID2 and that the incidence of spinocerebellar ataxia in humans is not associated with GRID2 mutation or polymorphisms.

关键词： nerve regeneration spinocerebellar ataxia δ2 glutamate receptor mutation gene polymorphism single nucleotide polymorphism NSFC grant neural regeneration

A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/spinocerebellar-ataxia Complex

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Neuroscience Bulletin 2024年第10期40卷 1489-1501页

作者： Han-Kui Liu Hong-Lin Hao Hui You Feng Feng Xiu-Hong Qi Xiao-Yan Huang Bo Hou Chang-Geng Tian Han Wang Huan-Ming Yang Jian Wang Rui Wu Hui Fang Jiang-Ning Zhou Jian-Guo Zhang Zhen-Xin Zhang BGI Genomics and BGI Research Shenzhen 518083China Department of Neurology Clinical Epidemiology UnitPeking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Division of Life Sciences and Medicine University of Science and Technology of ChinaHefei 230026China Department of Radiology Peking Union Medical College HospitalChinese Academy of Medical SciencesBeijing 100730China Department of Pathology Beijing Key Laboratory of Biomarker Research and Transformation for Neurodegenerative DiseasesPeking University Third HospitalSchool of Basic Medical SciencesPeking University Health Science CenterBeijing 100191China Anhui Provincial Children's Hospital Children's Hospital of Fudan UniversityHefei 230051China Hebei Industrial Technology Research Institute of Genomics in Maternal and Child Health Clin LabBGI GenomicsShijiazhuang 050011China Institute of Brain Science The First Affliated Hospital of Anhui Medical UniversityHefei 230022China

This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes,which has not been depicted by the known neurodegenerative *** performed physical and neurological examinations with International Rating Scales to assess signs of ataxia,Parkinsonism,and cognitive function,as well as brain magnetic resonance imaging scans with seven *** searched for co-segregations of abnormal repeat-expansion loci,pathogenic variants in known spinocerebellar ataxiarelated genes,and novel rare mutations via whole-genome sequencing and linkage analysis.A rare co-segregating missense mutation in the CARS gene was validated by Sanger sequencing and the aminoacylation activity of mutant CARS was measured by spectrophotometric *** pedigree presented novel late-onset core characteristics including cerebellar ataxia,Parkinsonism,and pyramidal signs in all nine affected *** magnetic resonance imaging showed cerebellar/pons atrophy,pontine-midline linear hyperintensity,decreased rCBF in the bilateral basal ganglia and cerebellar dentate nucleus,and hypo-intensities of the cerebellar dentate nuclei,basal ganglia,mesencephalic red nuclei,and substantia nigra,all of which suggested ***-genome sequencing identified a novel pathogenic heterozygous mutation(E795V)in the CARS gene,meanwhile,exhibited none of the known repeat-expansions or point mutations in pathogenic ***,this CARS mutation causes a 20%decrease in aminoacylation activity to charge tRNACys with L-cysteine in protein synthesis compared with that of the wild *** family members carrying a heterozygous mutation CARS(E795V)had the same clinical manifestations and neuropathological changes of Parkinsonism and *** findings identify novel pathogenesis of Parkinsonismspinocerebellar ataxia and provide insights into its genetic architecture.

关键词： Parkinsonism spinocerebellar ataxia CARS gene

Mapping of a dominantly inherited spinocerebellar ataxia with azoospermia to chromosome 7q32.3

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Mapping of a dominantly inherited spinocerebellar ataxia wit...

Cell-based therapeutic strategies for treatment of spinocerebellar ataxias:an update

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Nancy J.Cox Christopher M.Gomez Section of Genetic Medicine Department of MedicineUniversity of ChicagoChicago60637USA Department of Neurology University of Chicago Medical CenterChicagoIllinois 60637USA

＜正＞The dominantly inherited spinocerebellar ataxias（SCA） are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive imbalance,dysarthria and motor *** distinct SCA subtypes can only be distinguished consistently by genetic *** identified a five-generation kindred of french ancestry inherited as an autosomal dominant trait that is associated with a novel form of progressive ataxia and cognitive impairment,in which all affected males are *** disorder is inherited only from affected or presymptomatic *** affected individuals including 9 females and 11 males,particularly females,have a broad range of age of onset, which is significantly much later than male *** neuropsychological evaluations demonstrated cognitive impairment with borderline IQ scores for those with onset of ataxia before 40 years *** magnetic resonance imaging demonstrates cerebellar *** males had testicular atrophy and *** biopsy from one sterile male demonstrated complete absence of germ cells and *** exclusion of mutations in or linkage to known SCA loci and genes,fragile X,X-linkage,Y-chromosome microdeletion,we carried out a genome-wide genetic linkage scan and located the disease locus to chromosome 7q32.3 by two-point analysis（a maximal two-point LOD score of 3.59,9=0） and haplotype-based *** of one candidate disease-causing gene（transiently secret） within the region using a recombinant DNA sequencing approach including TA clone method,which carried（ATTCT）n pentanucleotide repeat units in intron 31,revealed an interesting small difference in the size of repeat between affected and normal individuals in the pedigree,for which more normal controls should be detected and confirmed for co-segregation in the *** of the gene responsible for this complex phenotype may shed additional light into the pa

关键词： dominantly inherited spinocerebellar ataxia kindred clinical characteristics mapping

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Neural Regeneration Research 2023年第6期18卷 1203-1212页

作者： Joana Sofia Correia Sara Duarte-Silva António JoséSalgado Patrícia Maciel Life and Health Sciences Research Institute(ICVS) School of MedicineUniversity of MinhoBragaPortugal ICVS/3B’s–PT Government Associate Laboratory BragaGuimarãesPortugal

spinocerebellar ataxias are heritable neurodegenerative diseases caused by a cytosine-adenine-guanine expansion,which encodes a long glutamine tract(polyglutamine)in the respective wild-type protein causing misfolding and protein *** features of polyglutamine spinocerebellar ataxias include neuronal aggregation,mitochondrial dysfunction,decreased proteasomal activity,and autophagy *** polyglutamine protein aggregates accumulate within neurons and cause neural dysfunction and death in specific regions of the central nervous *** ataxias are mostly characterized by progressive ataxia,speech and swallowing problems,loss of coordination and gait *** the past decade,efforts have been made to ameliorate disease symptoms in patients,yet no cure is *** studies have been proposing the use of stem cells as promising tools for central nervous system tissue *** far,pre-clinical trials have shown improvement in various models of neurodegenerative diseases following stem cell transplantation,including animal models of spinocerebellar ataxia types 1,2,and ***,contrasting results can be found in the literature,depending on the animal model,cell type,and route of administration ***,clinical trials using cellular implants into degenerated brain regions have already been applied,with the expectation that these cells would be able to differentiate into the specific neuronal subtypes and re-populate these regions,reconstructing the affected neural ***,the question of how feasible it is to continue such treatments remains unanswered,with long-lasting effects being still *** establish the value of these advanced therapeutic tools,it is important to predict the actions of the transplanted cells as well as to understand which cell type can induce the best outcomes for each *** studies are needed to determine the best route of administration,without neglec

关键词： cell transplantation engraftment induced pluripotent stem cells mesenchymal stem cells neural progenitor cells neuroprotection polyglutamine spinocerebellar ataxias secretome spinocerebellar ataxia stem cell therapy

Profiling neuroprotective potential of trehalose in animal models of neurodegenerative diseases:a systematic review

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Neural Regeneration Research 2023年第6期18卷 1179-1185页

作者： Kah Hui Yap Shahrul Azmin Suzana Makpol Hanafi Ahmad Damanhuri Muzaimi Mustapha Jemaima Che Hamzah Norlinah Mohamed Ibrahim Department of Medicine UKM Medical CentreKuala LumpurMalaysia Department of Biochemistry UKM Medical CentreKuala LumpurMalaysia Department of Neurosciences School of Medical SciencesUniversiti Sains MalaysiaKelantanMalaysia Department of Ophthalmology UKM Medical CentreKuala LumpurMalaysia

Trehalose,a unique nonreducing crystalline disaccharide,is a potential disease-modifying treatment for neurodegenerative diseases associated with protein misfolding and aggregation due to aging,intrinsic mutations,or autophagy *** systematic review summarizes the effects of trehalose on its underlying mechanisms in animal models of selected neurodegenerative disorders(tau pathology,synucleinopathy,polyglutamine tract,and motor neuron diseases).All animal studies on neurodegenerative diseases treated with trehalose published in Medline(accessed via EBSCOhost)and Scopus were *** the 2259 studies screened,29 met the eligibility *** to the SYstematic Review Center for Laboratory Animal Experiment(SYRCLE)risk of bias tool,we reported 22 out of 29 studies with a high risk of *** present findings support the purported role of trehalose in autophagic flux and protein *** review identified several other lesser-known pathways,including modifying amyloid precursor protein processing,inhibition of reactive gliosis,the integrity of the blood-brain barrier,activation of growth factors,upregulation of the downstream antioxidant signaling pathway,and protection against mitochondrial *** absence of adverse events and improvements in the outcome parameters were observed in some studies,which supports the transition to human clinical *** is possible to conclude that trehalose exerts its neuroprotective effects through both direct and indirect ***,heterogeneous methodologies and outcome measures across the studies rendered it impossible to derive a definitive *** studies on trehalose would need to clarify three important questions:1)bioavailability with oral administration,2)optimal time window to confer neuroprotective benefits,and 3)optimal dosage to confer neuroprotection.

关键词： amyotrophic lateral sclerosis autophagy neurodegenerative disease neuroinflammation polyglutamine tract protein refolding spinocerebellar ataxia synucleinopathy tau pathology trehalose

Clinical manifestations and gene mutation in a case of Machado-Joseph disease

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Neural Regeneration Research 2012年第35期7卷 2842-2847页

作者： Bin Zhang Liru Li Longxing Chen Jie Huang Department of Neurology Branch Hospital in Fengxian of Sixth People's Hospital Shanghai Neurological Research Institute of Anhui University of Science & Technology the Affiliated Hospital of Anhui University of Science & Technology Department of Emergency Branch Hospital in Fengxian of Sixth People's Hospital Shanghai Neurological Research Institute of Anhui University of Science & Technology the Affiliated Hospital of Anhui University of Science & Technology Department of Radiology Branch Hospital in Fengxian of Sixth People's Hospital Shanghai Neurological Research Institute of Anhui University of Science & Technology the Affiliated Hospital of Anhui University of Science & Technology

This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Crania MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 （ATXN3） gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history.

关键词： machado-Joseph disease clinical characteristics imaging molecular genetics spinocerebellarataxia-3 gene gene mutation exon 10 spinocerebellar ataxia nervous system disease