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The Pathology of primary familial brain calcification:Implications for Treatment

Neuroscience Bulletin 2023年第4期39卷 659-674页

作者： Xuan Xu Hao Sun Junyu Luo Xuewen Cheng Wenqi Lv Wei Luo Wan-Jin Chen Zhi-Qi Xiong Jing-Yu Liu Institute of Neuroscience State Key Laboratory of NeuroscienceCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai200031China College of Life Science and Technology Huazhong University of Science and TechnologyWuhan430074China Department of Neurology and Institute of Neurology of First Affiliated Hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhou350005China Department of Neurology The Second Affiliated HospitalZhejiang University School of MedicineHangzhou310009China

primary familial brain calcification(PFBC)is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain,accompanied by various symptoms,such as dystonia,ataxia,parkinsonism,dementia,depression,headaches,and ***,the etiology of PFBC is largely unknown,and no specific prevention or treatment is *** the past 10 years,six causative genes(SLC20A2,PDGFRB,PDGFB,XPR1,MYORG,and JAM2)have been identified in *** this review,considering mechanistic studies of these genes at the cellular level and in animals,we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC *** systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics,provides a summary of the known composition of brain calcification,and identifies some potential therapeutic targets for PFBC.

关键词： primary familial brain calcification Causative gene Pathogenesis Preventive and therapeutic strategy

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A Case of Fahr’s Disease with Epilepsy as the First Symptom in Infancy

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Case Reports in Clinical Medicine 2024年第4期13卷 101-107页

作者： Qicheng Qiao Xinlu Tan Qiubo Li Clinical Medicine College Jining Medical University Jining China Departments of Pediatrics Affiliated Hospital of Jining Medical University Jining China

Background: Fahr’s disease, also recognized as Idiopathic Basal Ganglia calcification (IBGC) or primary familial brain calcification (PFBC), was first identified by the German neurologist Karl Theodor Fahr in 1930. This rare condition, which involves the calcification of the basal ganglia and presents significant treatment challenges, is most commonly diagnosed in middle-aged adults and is notably uncommon in children. Purpose: We report a case of a younger patient and review this disease as an aid to early detection and diagnosis of the disease. Case Introduction: In this report, we present a unique case of Fahr’s disease in a child, where epilepsy manifested as the initial symptom during infancy. In this report, we present a case of Fahr’s disease in a child who presented with epilepsy as the first symptom in infancy. The child had no imaging abnormalities at the onset of the seizure, and subsequent antiepileptic drugs were reduced and discontinued, and when the seizure recurred 3 years later, a perfect cranial CT revealed symmetrical calcifications in the brain, which gradually worsened, and subsequently the child was unable to take care of himself and had regression of his psychomotor development, and the family requested discharge from the hospital, and then the child died during the follow-up visit. Conclusion: The disease is currently associated with a number of disorders for which there is no specific treatment, and half of all patients currently have a well-defined gene, emphasizing more importantly the importance of genetic counseling for parents known to be at risk prior to conception.

关键词： Fahr primary familial brain calcification Epilepsy

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Mechanisms of PiT2-loop7 Missense Mutations Induced Pi Dyshomeostasis

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Neuroscience Bulletin 2023年第1期39卷 57-68页

作者： Hao Sun Xuan Xu Junyu Luo Tingbin Ma Jiaming Cui Mugen Liu Bo Xiong Shujia Zhu Jing-Yu Liu College of Life Science and Technology Huazhong University of Science and Technology(HUST)Wuhan430074China Institute of Neuroscience State Key Laboratory of NeuroscienceCenter for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai200031China Department of Forensic Medicine Tongji Medical CollegeHUSTWuhan430030China

PiT2 is an inorganic phosphate(Pi)transporter whose mutations are linked to primary familial brain calcification(PFBC).PiT2 mainly consists of two ProDom(PD)domains and a large intracellular loop region(loop7).The PD domains are crucial for the Pi transport,but the role of PiT2-loop7 remains *** PFBC patients,mutations in PiT2-loop7 are mainly nonsense or frameshift mutations that probably cause PFBC due to C-PD1131 *** date,six missense mutations have been identified in PiT2-loop7;however,the mechanisms by which these mutations cause PFBC are poorly ***,we found that the p.T390A and p.S434W mutations in PiT2-loop7 decreased the Pi transport activity and cell surface levels of ***,we showed that these two mutations attenuated its membrane localization by affecting adenosine monophosphate-activated protein kinase(AMPK)-or protein kinase B(AKT)-mediated PiT2 *** contrast,the p.S121C and p.S601W mutations in the PD domains did not affect PiT2 phosphorylation but rather impaired its substrate-binding *** results suggested that missense mutations in PiT2-loop7 can cause Pi dyshomeostasis by affecting the phosphorylation-regulated cell-surface localization of *** study helps understand the pathogenesis of PFBC caused by PiT2-loop7 missense mutations and indicates that increasing the phosphorylation levels of PiT2-loop7 could be a promising strategy for developing PFBC therapies.

关键词： PiT2-loop7 Mutation primary familial brain calcification Phosphorylation Pi dyshomeostasis

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