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Amyotrophic Lateral Sclerosis Volume 12, 2011 - Issue 3
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Research Article

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

Francesca Avemaria Department of Laboratory Medicine, Medical Genetics
,
Christian Lunetta NEuroMuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, ItalyCorrespondence[email protected]
,
Claudia Tarlarini Department of Laboratory Medicine, Medical Genetics
,
Lorena Mosca Department of Laboratory Medicine, Medical Genetics
,
Eleonora Maestri NEuroMuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, Italy
,
Alessandro Marocchi Department of Laboratory Medicine, Medical Genetics
,
Mario Melazzini NEuroMuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, Italy
,
Silvana Penco Department of Laboratory Medicine, Medical Genetics
&
Massimo Corbo NEuroMuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, Italy
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Pages 228-230 | Received 22 Dec 2010, Accepted 23 Feb 2011, Published online: 28 Mar 2011

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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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Articles from other publishers (23)

Veronica Gatti, Sara De Domenico, Gerry Melino & Angelo Peschiaroli. (2023) Senataxin and R-loops homeostasis: multifaced implications in carcinogenesis. Cell Death Discovery 9:1.
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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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Aristides Hadjinicolaou, Kathie J. Ngo, Daniel Y. Conway, John P. Provias, Steven K. Baker, Lauren I. Brady, Craig L. Bennett, Albert R. La Spada, Brent L. Fogel & Grace Yoon. (2021) De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathologica Communications 9:1.
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L. Chen. (2021) FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS. Revue Neurologique 177:4, pages 333-340.
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Lin Lei, Hai Chen, Yan Lu, Wenjia Zhu, Yasheng Ouyang, Jianying Duo, Zhiguo Chen & Yuwei Da. (2020) Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up. Journal of Neurology 268:3, pages 1050-1058.
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Li Chen, Yali Wang & Jie Xie. (2020) A Human iPSC Line Carrying a de novo Pathogenic FUS Mutation Identified in a Patient With Juvenile ALS Differentiated Into Motor Neurons With Pathological Characteristics. Frontiers in Cellular Neuroscience 14.
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Arijit Dutta, Robert Hromas & Patrick Sung. 2020. Amyotrophic Lateral Sclerosis - Recent Advances and Therapeutic Challenges. Amyotrophic Lateral Sclerosis - Recent Advances and Therapeutic Challenges.
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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Craig L. Bennett, Bryce L. Sopher & Albert R. La Spada. (2020) Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. Heliyon 6:6, pages e04165.
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Christopher Grunseich, Aneesh Patankar, Joshua Amaya, Jason A. Watts, Dongjun Li, Prisila Ramirez, Alice B. Schindler, Kenneth H. Fischbeck & Vivian G. Cheung. (2020) Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Annals of Neurology 87:4, pages 547-555.
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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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Matthew Wood, Annabel Quinet, Yea-Lih Lin, Albert A. Davis, Philippe Pasero, Yuna M. Ayala & Alessandro Vindigni. (2020) TDP-43 dysfunction results in R-loop accumulation and DNA replication defects. Journal of Cell Science.
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P. Corcia, S. Bakkouche, B. Dauriat, S. Beltran & P. Vourc’h. (2019) Genetica della sclerosi laterale amiotrofica. EMC - Neurologia 19:4, pages 1-8.
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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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Craig L. Bennett, Somasish G. Dastidar, Shuo-Chien Ling, Bilal Malik, Travis Ashe, Mandheer Wadhwa, Derek B. Miller, Changwoo Lee, Matthew B. Mitchell, Michael A. van Es, Christopher Grunseich, Yingzhang Chen, Bryce L. Sopher, Linda Greensmith, Don W. Cleveland & Albert R. La Spada. (2018) Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathologica 136:3, pages 425-443.
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Craig L. Bennett & Albert R. La Spada. 2018. RNA Metabolism in Neurodegenerative Diseases. RNA Metabolism in Neurodegenerative Diseases 265 281 .
P. Corcia, P. Couratier, H. Blasco, C.R. Andres, S. Beltran, V. Meininger & P. Vourc’h. (2017) Genetics of amyotrophic lateral sclerosis. Revue Neurologique 173:5, pages 254-262.
Crossref
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.
Crossref
Elena Ratti & James D. Berry. 2016. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry 685 712 .
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.
Crossref
Craig L. Bennett, Yingzhang Chen, Marissa Vignali, Russell S. Lo, Amanda G. Mason, Asli Unal, Nabiha P. Huq Saifee, Stanley Fields & Albert R. La Spada. (2013) Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide. PLoS ONE 8:11, pages e78837.
Crossref
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.
Crossref
Sabine Rudnik-Schöneborn, Larissa Arning, Jörg T. Epplen & Klaus Zerres. (2012) SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscular Disorders 22:3, pages 258-262.
Crossref

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