Search

Your search keyword '"Cereda, Cristina"' showing total 5 results
Start Over Author "Cereda, Cristina" Journal journal of clinical medicine
5 results on '"Cereda, Cristina"'

2. Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Author

Garau, Jessica, primary, Cavallera, Vanessa, additional, Valente, Marialuisa, additional, Tonduti, Davide, additional, Sproviero, Daisy, additional, Zucca, Susanna, additional, Battaglia, Domenica, additional, Battini, Roberta, additional, Bertini, Enrico, additional, Cappanera, Silvia, additional, Chiapparini, Luisa, additional, Crasà, Camilla, additional, Crichiutti, Giovanni, additional, Dalla Giustina, Elvio, additional, D’Arrigo, Stefano, additional, De Giorgis, Valentina, additional, De Simone, Micaela, additional, Galli, Jessica, additional, La Piana, Roberta, additional, Messana, Tullio, additional, Moroni, Isabella, additional, Nardocci, Nardo, additional, Panteghini, Celeste, additional, Parazzini, Cecilia, additional, Pichiecchio, Anna, additional, Pini, Antonella, additional, Ricci, Federica, additional, Saletti, Veronica, additional, Salvatici, Elisabetta, additional, Santorelli, Filippo, additional, Sartori, Stefano, additional, Tinelli, Francesca, additional, Uggetti, Carla, additional, Veneselli, Edvige, additional, Zorzi, Giovanna, additional, Garavaglia, Barbara, additional, Fazzi, Elisa, additional, Orcesi, Simona, additional, and Cereda, Cristina, additional

Published
2019
Full Text
View/download PDF

3. Nuclear Phospho-SOD1 Protects DNA from Oxidative Stress Damage in Amyotrophic Lateral Sclerosis

Author

Bordoni, Matteo, primary, Pansarasa, Orietta, additional, Dell’Orco, Michela, additional, Crippa, Valeria, additional, Gagliardi, Stella, additional, Sproviero, Daisy, additional, Bernuzzi, Stefano, additional, Diamanti, Luca, additional, Ceroni, Mauro, additional, Tedeschi, Gabriella, additional, Poletti, Angelo, additional, and Cereda, Cristina, additional

Published
2019
Full Text
View/download PDF

5. A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.

Author

Filosto, Massimiliano, Piccinelli, Stefano Cotti, Palmieri, Ilaria, Necchini, Nicola, Valente, Marialuisa, Zanella, Isabella, Biasiotto, Giorgio, Lorenzo, Diego Di, Cereda, Cristina, and Padovani, Alessandro

Subjects
FAMILIAL spastic paraplegia, RARE diseases, CHARCOT-Marie-Tooth disease, AMINO acids, ARM
Abstract

KIF5A encodes the heavy chain A of kinesin; A motor protein involved in motility functions within neuron. Mutations in the KIF5A N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases. Recently C-terminal cargo-binding tail domain mutations have been associated with an amyotrophic lateral sclerosis (ALS) phenotype. Here we describe a subject presenting with an atypical slowly progressive motor syndrome evolving over a period of 4 years; Characterized by walking difficulties; Muscle hypotrophy mainly involving upper limbs and pyramidal signs confined to the lower limbs. Electromyography demonstrated chronic neurogenic damage and active denervation while electroneurography showed slowly worsening axonal damage. We identified the novel heterozygote variant c.2341A>G in the exon 21 of the KIF5A gene resulting in the amino acid change p.Lys781Glu. The residue Lys781 is located within the terminal region of the stalk domain and is highly evolutionary conserved. Our findings confirm that mutations in KIF5A cause ALS-like phenotypes. However, the stalk domain mutation described here appears to result in an "intermediate" slowly progressive phenotype having aspects resembling ALS as well as HSP and axonal neuropathy. We suggest that KIF5A gene should be considered as a candidate gene in all atypical progressive motor syndromes. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results