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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders Volume 4, 2003 - Issue 3
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Original research

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

Kourosh Rezania Department of Neurology, The University of Chicago, 5841 S. Maryland Ave/MC2030, Chicago, IL, 60637, USA
,
Jianhua Yan Department of Neurology, Tarry 13‐715, Northwestern University, 303 East Chicago Ave, Chicago, IL, 60611, USA
,
Lisa Dellefave Department of Neurology, RHC, 6th Floor, Regenstrief, Indiana University, 1050 W. Walnut St. Indianapolis, IN, 46202, USA
,
Han‐Xiang Deng Department of Neurology, The University of Chicago, 5841 S. Maryland Ave/MC2030, Chicago, IL, 60637, USACorrespondence[email protected]
,
Nailah Siddique Department of Neurology, Tarry 13‐715, Northwestern University, 303 East Chicago Ave, Chicago, IL, 60611, USA
,
Robert T Pascuzzi Department of Neurology, RHC, 6th Floor, Regenstrief, Indiana University, 1050 W. Walnut St. Indianapolis, IN, 46202, USA
,
Teepu Siddique Department of Neurology, The University of Chicago, 5841 S. Maryland Ave/MC2030, Chicago, IL, 60637, USA
&
Raymond P Roos Department of Neurology, Tarry 13‐715, Northwestern University, 303 East Chicago Ave, Chicago, IL, 60611, USA
 show all
Pages 162-166 | Published online: 10 Jul 2009

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Si-Qi Dong, Xiao-Ni Liu, Wen-Bo Yang, Yan-Ni Zhou, Jiu-Cun Wang & Xiang-Jun Chen. (2020) An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:5-6, pages 473-476.
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Yanran Li, Bo Sun, Siyu Chen, Yuting Ren, Fang Cui, Fei Yang, Zhaohui Chen, Li Ling & Xusheng Huang. (2018) A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19:7-8, pages 516-521.
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Paola Origone, Claudia Caponnetto, Monica Bandettini Di Poggio, Elisabetta Ghiglione, Emilia Bellone, Giovanna Ferrandes, Giovanni Luigi Mancardi & Paola Mandich. (2010) Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. Amyotrophic Lateral Sclerosis 11:1-2, pages 223-227.
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Fabio Giannini, Stefania Battistini, Michelangelo Mancuso, Giuseppe Greco, Claudia Ricci, Nila Volpi, Alberto Del Corona, Selina Piazza & Gabriele Siciliano. (2010) D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. Amyotrophic Lateral Sclerosis 11:1-2, pages 216-219.
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Huagang Zhang, Hongshan Zhao, Ming Lu, Yingshuang Zhang, Liping Wang, Jun Zhang, Dalon Ma & Dongsheng Fan. (2005) A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China. Amyotrophic Lateral Sclerosis 6:4, pages 234-238.
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Articles from other publishers (24)

Alessandro Bombaci, Antonino Lupica, Federico Emanuele Pozzi, Giulia Remoli, Umberto Manera & Vincenzo Di Stefano. (2023) Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review. Journal of Neurology 270:12, pages 5677-5691.
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Kathrin Müller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim & Peter Munch Andersen. (2022) De novo mutations in SOD1 are a cause of ALS . Journal of Neurology, Neurosurgery & Psychiatry 93:2, pages 201-206.
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Serena Lattante, Giuseppe Marangi, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Marcella Zollino & Mario Sabatelli. (2020) High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines. Genes 11:10, pages 1123.
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Liina KuuluvainenKarri KaivolaSaana MönkäreHannu LaaksovirtaManu JokelaBjarne UddMiko ValoriPetra PasanenAnders PaetauBryan J. TraynorDavid J. StoneJohanna SchleutkerMinna PöyhönenPentti J. TienariLiisa Myllykangas. (2019) Oligogenic basis of sporadic ALS. Neurology Genetics 5:3.
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Ramneek Kaur, Harleen Kaur, Rashi Rajput, Sachin Kumar, Rachana R. & Manisha Singh. 2019. Handbook of Research on Critical Examinations of Neurodegenerative Disorders. Handbook of Research on Critical Examinations of Neurodegenerative Disorders 129 152 .
Ilaria Bicchi, Carla Emiliani, Angelo Vescovi & Sabata Martino. (2015) The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics. Neurodegenerative Diseases 15:6, pages 313-321.
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Sheng Chen, Pavani Sayana, Xiaojie Zhang & Weidong Le. (2013) Genetics of amyotrophic lateral sclerosis: an update. Molecular Neurodegeneration 8:1.
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Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou & Xun-Zhe Yang. (2013) De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiology of Aging 34:4, pages 1312.e1-1312.e8.
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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.
Crossref
Faisal Fecto & Teepu Siddique. (2011) SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis . Annals of Neurology 70:6, pages 867-870.
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Faisal Fecto & Teepu Siddique. (2011) Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia. Journal of Molecular Neuroscience 45:3, pages 663-675.
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Duane D. Winkler, Mercedes Prudencio, Celeste Karch, David R. Borchelt & John Hart. 2010. Protein Misfolding Diseases. Protein Misfolding Diseases 381 401 .
Sai V. Seetharaman, Mercedes Prudencio, Celeste Karch, Stephen P. Holloway, David R. Borchelt & P. John Hart. (2009) Immature Copper-Zinc Superoxide Dismutase and Familial Amyotrophic Lateral Sclerosis. Experimental Biology and Medicine 234:10, pages 1140-1154.
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Gianluca Isoardo & Walter Troni. (2008) Sporadic bulbospinal muscle atrophy with facial-onset sensory neuropathy. Muscle & Nerve 37:5, pages 659-662.
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Man-Cheuk Ng, Jenny Ting Ho, Shu-Leong Ho, Raymand Lee, Geng Li, Tat-Sun Cheng, You-Qiang Song, Philip Wing-Lok Ho, Gardian Chung-Yan Fong, Windsor Mak, Koon-Ho Chan, Leonard Sheung-Wai Li, Keith Dip-Kei Luk, Yong Hu, David Boyer Ramsden & Lilian Ling-Yee Leong. (2008) Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. Journal of Magnetic Resonance Imaging 27:1, pages 8-13.
Crossref
Jose-Luis Gonzalez de Aguilar, Andoni Echaniz-Laguna, Anissa Fergani, Frédérique René, Vincent Meininger, Jean-Philippe Loeffler & Luc Dupuis. (2007) Amyotrophic lateral sclerosis: all roads lead to Rome. Journal of Neurochemistry 101:5, pages 1153-1160.
Crossref
Paul Orban, Rebecca S. Devon, Michael R. Hayden & Blair R. Leavitt. 2007. Motor neuron disorders and related diseases. Motor neuron disorders and related diseases 301 312 .
Christopher E. Shaw, Virginia Arechavala-Gomeza & Ammar Al-Chalabi. 2007. Motor neuron disorders and related diseases. Motor neuron disorders and related diseases 279 300 .
P. Corcia. (2006) Contenu et modalités de l’annonce du diagnostic de SLA dans un contexte familial. Revue Neurologique 162, pages 122-126.
Crossref
Peter M. Andersen. (2006) Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene. Current Neurology and Neuroscience Reports 6:1, pages 37-46.
Crossref
M. Flint Beal, Anthony E. Lang & Albert C. LudolphAmmar Al-Chalabi & Robert H. Brown. 2010. Neurodegenerative Diseases. Neurodegenerative Diseases 758 771 .
AMMAR AL-CHALABI & P. NIGEL LEIGH. 2005. Peripheral Neuropathy. Peripheral Neuropathy 1595 1601 .
Catherine B. Kunst. (2004) Complex Genetics of Amyotrophic Lateral Sclerosis. The American Journal of Human Genetics 75:6, pages 933-947.
Crossref
Heather G. Stewart & Peter M. Andersen. 2004. Clinical Neurophysiology of Motor Neuron Diseases. Clinical Neurophysiology of Motor Neuron Diseases 543 562 .

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