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Amyotrophic Lateral Sclerosis Volume 11, 2010 - Issue 1-2
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Original Article

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

Fabio Giannini Departments of Neurosciences,Correspondence[email protected]
,
Stefania Battistini Departments of Neurosciences,
,
Michelangelo Mancuso Department of Neurosciences, University of Pisa, Pisa, Italy
,
Giuseppe Greco Departments of Neurosciences,
,
Claudia Ricci Departments of Neurosciences,
,
Nila Volpi Biomedical Sciences, University of Siena, Siena
,
Alberto Del Corona Department of Neurosciences, University of Pisa, Pisa, Italy
,
Selina Piazza Department of Neurosciences, University of Pisa, Pisa, Italy
&
Gabriele Siciliano Department of Neurosciences, University of Pisa, Pisa, Italy
 show all
Pages 216-219 | Received 27 Nov 2008, Accepted 05 Jan 2009, Published online: 26 Feb 2010

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P. A. McCombe, N. R. Wray & R. D. Henderson. (2017) Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity. Expert Review of Neurotherapeutics 17:6, pages 561-577.
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Andrea Calvo, Antonio Ilardi, Cristina Moglia, Antonio Canosa, Giovanna Carrara, Consuelo Valentini, Irene Ossola, Maura Brunetti, Gabriella Restagno & Adriano Chiò. (2012) An ALS case with a novel D90N-SOD1 heterozygous missense mutation. Amyotrophic Lateral Sclerosis 13:4, pages 393-395.
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Articles from other publishers (20)

Cheng Chang, Qianqian Zhao, Pan Liu, Yanchun Yuan, Zhen Liu, Yiting Hu, Wanzhen Li, Xiaorong Hou, Xuxiong Tang, Bin Jiao, Jifeng Guo, Lu Shen, Hong Jiang, Beisha Tang, Xuewei Zhang & Junling Wang. (2023) ALS-plus related clinical and genetic study from China. Neurological Sciences 44:10, pages 3557-3566.
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Juan F. Vázquez‐Costa, Daniel Borrego‐Hernández, Carmen Paradas, María Teresa Gómez‐Caravaca, Ricardo Rojas‐Garcia, Luis Varona, Mónica Povedano, Tania García‐Sobrino, Ivonne Jericó Pascual, Antonio Gutiérrez, Javier Riancho, Janina Turon‐Sans, Abdelilah Assialioui, Jordi Pérez‐Tur, Teresa Sevilla, Jesús Esteban Pérez & Alberto García‐Redondo. (2023) Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease . European Journal of Neurology 30:4, pages 861-871.
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Dejan Aleksic, Stojan Peric, Sanja Milenkovic, Milena Jankovic, Vidosava Rakocevic-Stojanovic & Zorica Stevic. (2023) Basophilic peripheral nerve inclusions in a patient with L144F SOD1 amyotrophic lateral sclerosis. Vojnosanitetski pregled Military Medical and Pharmaceutical Journal of Serbia 80:1, pages 87-89.
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Eleonora Dalla Bella, Enrica Bersano, Maria Grazia Bruzzone, Cinzia Gellera, Viviana Pensato, Giuseppe Lauria & Monica Consonni. (2022) Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants. Neurology 99:18, pages e2052-e2062.
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Maia Farrugia Wismayer, Andrew Farrugia Wismayer, Adrian Pace, Neville Vassallo & Ruben J. Cauchi. (2021) SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo. European Journal of Human Genetics 30:7, pages 856-859.
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Rishabh Chaudhary, Vipul Agarwal, Mujeeba Rehman, Arjun Singh Kaushik & Vikas Mishra. (2022) Genetic architecture of motor neuron diseases. Journal of the Neurological Sciences 434, pages 120099.
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Giulia Gentile, Benedetta Perrone, Giovanna Morello, Isabella Laura Simone, Sebastiano Andò, Sebastiano Cavallaro & Francesca Luisa Conforti. (2021) Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients. Genes 12:12, pages 1843.
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Anna Bartoletti-Stella, Veria Vacchiano, Silvia De Pasqua, Giacomo Mengozzi, Dario De Biase, Ilaria Bartolomei, Patrizia Avoni, Giovanni Rizzo, Piero Parchi, Vincenzo Donadio, Adriano Chiò, Annalisa Pession, Federico Oppi, Fabrizio Salvi, Rocco Liguori & Sabina Capellari. (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of Neurology 268:10, pages 3766-3776.
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Giuliana Capece, Mauro Ceroni, Enrico Alfonsi, Ilaria Palmieri, Cristina Cereda & Luca Diamanti. (2021) Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation. Frontiers in Neurology 12.
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Alessia Carocci, Alessia Catalano, Maria Stefania Sinicropi & Giuseppe Genchi. (2018) Oxidative stress and neurodegeneration: the involvement of iron. BioMetals 31:5, pages 715-735.
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Qing-Qing Tao, Qiao Wei & Zhi-Ying Wu. (2018) Sensory nerve disturbance in amyotrophic lateral sclerosis. Life Sciences 203, pages 242-245.
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Thanuja Dharmadasa, José Manuel Matamala, William Huynh, Margaret C. Zoing & Matthew C. Kiernan. 2018. Balance, Gait, and Falls. Balance, Gait, and Falls 345 357 .
Ivan V. Marjanović, Biljana Selak-Djokić, Stojan Perić, Milena Janković, Vladimir Arsenijević, Ivana Basta, Dragana Lavrnić, Elka Stefanova & Zorica Stević. (2017) Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia. Journal of Neurology 264:6, pages 1091-1098.
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Raffaele Nardone, Yvonne Höller, Alexandra C. Taylor, Piergiorgio Lochner, Frediano Tezzon, Stefan Golaszewski, Francesco Brigo & Eugen Trinka. (2016) Canine degenerative myelopathy: a model of human amyotrophic lateral sclerosis. Zoology 119:1, pages 64-73.
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E. Dalla Bella, A. Rigamonti, V. Mantero, M. Morbin, S. Saccucci, C. Gellera, G. Mora & G. Lauria. (2014) Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery & Psychiatry 85:9, pages 1009-1011.
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Hong Chen, Kun Qian, Zhongwei Du, Jingyuan Cao, Andrew Petersen, Huisheng Liu, Lisle W. BlackbournIVIV, CindyTzu-Ling Huang, Anthony Errigo, Yingnan Yin, Jianfeng Lu, Melvin Ayala & Su-Chun Zhang. (2014) Modeling ALS with iPSCs Reveals that Mutant SOD1 Misregulates Neurofilament Balance in Motor Neurons. Cell Stem Cell 14:6, pages 796-809.
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Brandie R. Morgan, Joan R. Coates, Gayle C. Johnson, G. Diane Shelton & Martin L. Katz. (2014) Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis. Journal of Neuroscience Research 92:4, pages 531-541.
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Marka van Blitterswijk, Michael A. van Es, Eric A.M. Hennekam, Dennis Dooijes, Wouter van Rheenen, Jelena Medic, Pierre R. Bourque, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Paul I.W. de Bakker, Jan H. Veldink & Leonard H. van den Berg. (2012) Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Human Molecular Genetics 21:17, pages 3776-3784.
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A. Vela, L. Galán, C. Valencia, P. de la Torre, L. Cuadrado, J. Esteban, A. Guerrero, A. García-Redondo & J. Matías-Guiu. (2012) SOD1-N196 mutation in a family with amyotrophic lateral sclerosis. Neurología (English Edition) 27:1, pages 11-15.
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A. Vela, L. Galán, C. Valencia, P. de la Torre, M.L. Cuadrado, J. Esteban, A. Guerrero, A. García-Redondo & J. Matías-Guiu. (2012) Mutación SOD1-N19S en una familia de esclerosis lateral amiotrófica. Neurología 27:1, pages 11-15.
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