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Amyotrophic Lateral Sclerosis Volume 10, 2009 - Issue 2
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Original Article

A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis

Zhen-hua Zhao Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou
,
Wen-zu Chen Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou
,
Zhi-ying Wu Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou; Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, ChinaCorrespondence[email protected]
,
Ning Wang Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou
,
Gui-xian Zhao Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China
,
Wan-jin Chen Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou
&
Shen-xing Murong Department of Neurology and Institute of Neurology, First Affiliated Hospital, Centre of Neuroscience, Fujian Medical University, Fuzhou
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Pages 118-122 | Received 31 Jul 2008, Published online: 10 Jul 2009

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I. Andreini, F. Moro, L.M. Africa, A. Rubegni, F.M. Santorelli, C. Scarpini, F. Sicurelli & C. Battisti. (2020) Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:3-4, pages 312-313.
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Cristian A. Droppelmann, Danae Campos-Melo, Muhammad Ishtiaq, Kathryn Volkening & Michael J. Strong. (2014) RNA metabolism in ALS: When normal processes become pathological. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 15:5-6, pages 321-336.
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Patricia Richard & James L Manley. (2014) SETX sumoylation. Rare Diseases 2:1.
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Ramesh K. Narayanan, Marie Mangelsdorf, Ajay Panwar, Tim J. Butler, Peter G. Noakes & Robyn H. Wallace. (2013) Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:4, pages 252-260.
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Francesca Avemaria, Christian Lunetta, Claudia Tarlarini, Lorena Mosca, Eleonora Maestri, Alessandro Marocchi, Mario Melazzini, Silvana Penco & Massimo Corbo. (2011) Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression. Amyotrophic Lateral Sclerosis 12:3, pages 228-230.
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Michio Hirano, Catarina M. Quinzii, Hiroshi Mitsumoto, Arthur P. Hays, J. Kirk Roberts, Patricia Richard & Lewis P. Rowland. (2011) Senataxin mutations and amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis 12:3, pages 223-227.
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Articles from other publishers (24)

Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Rebecca Borg, Karl Bonavia, André Abela, Charmaine Chircop, Josanne Aquilina, Doriette Soler, Adrian Pace, Malcolm Vella, Neville Vassallo & Ruben J. Cauchi. (2023) Genetic landscape of ALS in Malta based on a quinquennial analysis. Neurobiology of Aging 123, pages 200-207.
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G. E. Rudenskaya, S. S. Nikitin, O. L. Shatokhina & O. A. Shchagina. (2022) Juvenile amyotrophic lateral sclerosis type 4: case report and review. Neuromuscular Diseases 12:3, pages 52-58.
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Owen Connolly, Laura Le Gall, Gavin McCluskey, Colette G Donaghy, William J Duddy & Stephanie Duguez. (2020) A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS. Journal of Personalized Medicine 10:3, pages 58.
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Ruriko Kitao, Yutaka HonmaAkihiro Hashiguchi, Kouichi MizoguchiHiroshi Takashima & Tetsuo Komori. (2020) A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene運動感覚性末梢神経障害と呼吸不全を呈しセナタキシン遺伝子にヘテロ接合性の新規変異を認めた1例. Rinsho Shinkeigaku 60:7, pages 466-472.
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Francesco Gentile, Stefania Scarlino, Yuri Matteo Falzone, Christian Lunetta, Lucio Tremolizzo, Angelo Quattrini & Nilo Riva. (2019) The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research. Frontiers in Neuroscience 13.
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Patricia Richard & James L. Manley. (2017) R Loops and Links to Human Disease. Journal of Molecular Biology 429:21, pages 3168-3180.
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Kornélia Tripolszki, Dóra Török, David Goudenège, Katalin Farkas, Adrienn Sulák, Nóra Török, József I. Engelhardt, Péter Klivényi, Vincent Procaccio, Nikoletta Nagy & Márta Széll. (2017) High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. Brain and Behavior 7:4, pages e00669.
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Hong-Fu Li & Zhi-Ying Wu. (2016) Genotype-phenotype correlations of amyotrophic lateral sclerosis. Translational Neurodegeneration 5:1.
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Giovanni Nardo, Maria Chiara Trolese, Massimo Tortarolo, Antonio Vallarola, Mattia Freschi, Laura Pasetto, Valentina Bonetto & Caterina Bendotti. (2016) New Insights on the Mechanisms of Disease Course Variability in ALS from Mutant SOD1 Mouse Models. Brain Pathology 26:2, pages 237-247.
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Nojan Valadi. (2015) Evaluation and Management of Amyotrophic Lateral Sclerosis. Primary Care: Clinics in Office Practice 42:2, pages 177-187.
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Julien Couthouis, Alya R. Raphael, Roxana Daneshjou & Aaron D. Gitler. (2014) Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis. PLoS Genetics 10:10, pages e1004704.
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Chiara Vantaggiato, Orazio Cantoni, Andrea Guidarelli, Romina Romaniello, Andrea Citterio, Filippo Arrigoni, Chiara Doneda, Marianna Castelli, Giovanni Airoldi, Nereo Bresolin, Renato Borgatti & Maria Teresa Bassi. (2014) Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents. Brain and Development 36:8, pages 682-689.
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Matthew B. Harms & Robert H. Baloh. (2013) Clinical Neurogenetics. Neurologic Clinics 31:4, pages 929-950.
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Christopher J. Klein, Xiaohui Duan & Michael E. Shy. (2013) Inherited neuropathies: Clinical overview and update. Muscle & Nerve 48:4, pages 604-622.
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Larissa Arning, Jörg T. Epplen, Elisa Rahikkala, Corinna Hendrich, Albert C. Ludolph & Anne-Dorte Sperfeld. (2012) The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. neurogenetics 14:1, pages 53-61.
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W. David Arnold & Kevin M. Flanigan. (2012) A Practical Approach to Molecular Diagnostic Testing in Neuromuscular Diseases. Physical Medicine and Rehabilitation Clinics of North America 23:3, pages 589-608.
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Rune Østern, Toril Fagerheim, Kristin Ørstavik, Trygve Holmøy, Arvid Heiberg, Inger Lund-Petersen, Tim M. Strom, Øivind Nilssen & Arve Dahl. (2012) Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene. Neuromuscular Disorders 22:6, pages 511-521.
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Fadia IbrahimTadashi NakayaZissimos Mourelatos. (2012) RNA Dysregulation in Diseases of Motor Neurons. Annual Review of Pathology: Mechanisms of Disease 7:1, pages 323-352.
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Brian Murray & Hiroshi Mitsumoto. 2012. Neurology in Clinical Practice. Neurology in Clinical Practice 1855 1889 .
Ian Wilmut, Gareth Sullivan & Ian Chambers. (2011) The evolving biology of cell reprogramming. Philosophical Transactions of the Royal Society B: Biological Sciences 366:1575, pages 2183-2197.
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Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-xian Zhao & Zhi-Ying Wu. (2010) Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. BMC Medical Genetics 11:1.
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Marka van Blitterswijk & John E. Landers. (2010) RNA processing pathways in amyotrophic lateral sclerosis. neurogenetics 11:3, pages 275-290.
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Michael J. Strong. (2010) The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS). Journal of the Neurological Sciences 288:1-2, pages 1-12.
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Brent L. Fogel, Ji Yong Lee & Susan Perlman. (2009) Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2. The Cerebellum 8:4, pages 448-453.
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