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Hypergonadotrophic Hypogonadism with cerebellar ataxia in a Twenty-Six-Year-Old Female: A Case Report

Open Journal of Modern Neurosurgery 2024年第1期14卷 83-90页

作者： Bibiana I. Oti Geoffrey Okorie Peter Chime Ethel Chime Birinus Ezeala-Adikaibe Casmir Orjioke Fintan Ekochin Michael C. Abonyi Enugu State University Teaching Hospital Enugu Nigeria University of Nigeria Teaching Hospital Ituku-Ozalla Nigeria

Gordon Holmes Syndrome is a rare inherited disease characterized by both neurological and reproductive signs and symptoms. Most patients develop neurologic challenges in early adulthood and cerebellar ataxia occurs as the disease progresses. In the majority of patients, hypogonadism is hypogonadotropic but rarely hypergonadotropic. We report a case of a 26-year-old female in Nigeria, with hypergonadotropic hypogonadism and cerebellar atrophy from a non-consanguineous marriage and no family history.

关键词： Gordon Holmes Syndrome Hypergonadotrophic Hypogonadism cerebellar ataxia Neuroendocrine Disorder

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SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate

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National Science Review 2021年第7期8卷 72-85页

作者： Hongfeng Zhang Yujuan Hong Weijie Yang Ruimin Wang Ting Yao Jian Wang Ke Liu Huilong Yuan Chaoqun Xu Yuanyuan Zhou Guanxian Li Lishan Zhang Hong Luo Xian Zhang Dan Du Hao Sun Qiuyang Zheng Yun-Wu Zhang Yingjun Zhao Ying Zhou Huaxi Xu Xin Wang State Key Laboratory of Cellular Stress Biology Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research Institute of Neuroscience School of Medicine Xiamen University National Institute for Data Science in Health and Medicine School of Medicine Xiamen University Cancer Research Center Department of Stomatology School of Medicine Xiamen University

Loss-of-function mutations in sorting nexin 14(SNX14) cause autosomal recessive spinocerebellar ataxia20, which is a form of early-onset cerebellar ataxia that lacks molecular mechanisms and mouse models. We generated Snx14-deficient mouse models and observed severe motor deficits and cell-autonomous Purkinje cell degeneration. SNX14 deficiency disrupted microtubule organization and mitochondrial transport in axons by destabilizing the microtubule-severing enzyme spastin, which is implicated in dominant hereditary spastic paraplegia with cerebellar ataxia, and compromised axonal integrity and mitochondrial function. Axonal transport disruption and mitochondrial dysfunction further led to degeneration of highenergy-demanding Purkinje cells, which resulted in the pathogenesis of cerebellar ataxia. The antiepileptic drug valproate ameliorated motor deficits and cerebellar degeneration in Snx14-deficient mice via the restoration of mitochondrial transport and function in Purkinje cells. Our study revealed an unprecedented role for SNX14-dependent axonal transport in cerebellar ataxia, demonstrated the convergence of SNX14 and spastin in mitochondrial dysfunction, and suggested valproate as a potential therapeutic agent.

关键词： sorting nexin 14 cerebellar ataxia Purkinje cell degeneration mitochondrial dysfunction axonal transport valproate

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Electricity: Past and Future or Black Holes and Green Planet

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Engineering（科研） 2024年第1期16卷 32-37页

作者： Michael Bank Department of Computer Science Jerusalem College of Engineering Jerusalem Israel

“Something is rotten in the state of Denmark”. These words of Shakespeare remember us that any small case can be connected with wider situation in the Globe. We would like to understand how changes electrical systems in time and what we will get in future. But what we know today about our home? Prominent scientists - physicists connect the past and future of our world with the formation and changes of black holes. “A black hole is a region of space-time whose gravitational attraction is so strong that even objects moving at the speed of light cannot leave it.” “A super massive black hole is a black hole with a mass of 105 - 1011 solar masses. Super massive black holes have been found at the center of many galaxies, including the Milky Way. Our galaxy revolves around a super massive black hole. This position of stellar bodies should be preserved for hundreds of millions of years.”

关键词： Gordon Holmes Syndrome Hypogonadotrophic Hypogonadism cerebellar ataxia Neuroendocrine Disorder

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Wernicke Encephalopathy in a Patient with Pulmonary and Abdominal Tuberculosis

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Chinese Medical Journal 2017年第22期130卷 2757-2758页

作者： Yun-Cui Gan Jing Jin Zhi-Xin Qiu Xue-Rong Chen Department of Pulmonary and Critical Care Medicine West China Hospital Sichuan University Chengdu Sichuan 610041 China

Wernicke encephalopathy （WE） is an acute or subacute neurological syndrome caused by thiamine （Vitamin B 1） deficiency and is usually underestimated in clinical practice. WE is suspected in merely about 6% of non-alcoholic patients and one-third of alcoholic patients, Non-alcoholic causes include gastrointestinal surgery and disease, malnutrition, cancer and chemotherapeutic treatments, and long-term parenteral nutrition.However, few cases were reported about WE in patients with tuberculosis. Early diagnosis and medication are vital for the prognosis of this disease.

关键词： cerebellar ataxia Mental Disorder Ophthalmoplegia Thiamine Deficiency Tuberculosis Wernicke Encephalopathy

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CT and MR Imaging Findings in the Joubert Syndrome,a“Ciliopathy”

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Journal of Biomedical Science and Engineering 2015年第10期8卷 695-699页

作者： Kaveh Akbari Christine M.Fellner Daniel Flory Franz A.Fellner Institute of Radiology Kepler University ClinicMedical Faculty of the Johannes Kepler UniversityLinzAustria Medical Faculty of the Friedrich-Alexander-University Erlangen-Nurnberg ErlangenGermany

A 7-year-old boy presented with cerebellar ataxia with reduced tonicity, deficits of the fine and gross motor coordination skills and vestibular stimulus processing, as well as significantly delayed language development. MR imaging showed the so-called “molar tooth sign”, which was highly pathognomonic for the Joubert-Syndrome—an inherited cerebellar ataxia with a variety of clinical symptoms—and related entities. It is caused by a complex malformation of the cerebellar vermis and the midbrain. The cerebellar vermis is hypoplastic or completely absent;at the same time, the superior cerebellar peduncles are thickened. There is a lack of normal decussation of the fiber tracts in mesencephalon, which follow an abnormal horizontal course, as well as a lack of the decussation of the corticospinal fiber tracts in the caudal medulla oblongata and deformity of the 4th ventricle. Clinically, the triad of cerebellar ataxia, developmental retardation, and abnormal eye movements is indicating a related syndrome of this spectrum. The appearance of the involved children is characterized by dysmorphic facial features with epicanthus, broad nose bridge, low set ears and typically triangularly shaped and opened mouth. The diagnosis is usually made by imaging and clinical findings. Recently, advantages were made in genetic research on the Joubert syndrome and interesting findings published about diffusion tensor imaging and tractography. However, standard MR imaging, applying an adequate imaging protocol including sequences with excellent T1 contrast and 3D imaging with isotropic spatial resolution allowing reconstructions in all orientations, remains an essential tool for making this diagnosis.

关键词： Joubert Syndrome Ciliopathy cerebellar ataxia Molar Tooth Sign Magnetic Resonance(MR)Imaging

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