Literature DB >> 20184519

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

Fabio Giannini1, Stefania Battistini, Michelangelo Mancuso, Giuseppe Greco, Claudia Ricci, Nila Volpi, Alberto Del Corona, Selina Piazza, Gabriele Siciliano.   

Abstract

Among the 140 Cu/Zn superoxide dismutase-1 (SOD1) gene mutations associated with ALS, only D90A, the most prevalent mutation in Europe, has been clearly shown to cause recessive and dominant ALS. Here we first describe two, apparently sporadic, Italian ALS patients heterozygous for the D90A mutation. One patient experienced early sensory involvement, confirmed by nerve biopsy. We review sensory symptoms in SOD1 ALS and discuss its possible origin in D90A heterozygous patients.

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Year:  2010        PMID： 20184519     DOI： 10.3109/17482960902721642

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler        ISSN： 1471-180X


  7 in total

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Authors:  Ivan V Marjanović; Biljana Selak-Djokić; Stojan Perić; Milena Janković; Vladimir Arsenijević; Ivana Basta; Dragana Lavrnić; Elka Stefanova; Zorica Stević
Journal:  J Neurol       Date:  2017-04-25       Impact factor: 4.849

2.  Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis.

Authors:  Marco Luigetti; Amelia Conte; Francesca Madia; Giuseppe Marangi; Marcella Zollino; Irene Mancuso; Michele Dileone; Alessandra Del Grande; Vincenzo Di Lazzaro; Pietro Attilio Tonali; Mario Sabatelli
Journal:  Neurol Sci       Date:  2009-08-15       Impact factor: 3.307

3.  Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons.

Authors:  Hong Chen; Kun Qian; Zhongwei Du; Jingyuan Cao; Andrew Petersen; Huisheng Liu; Lisle W Blackbourn; CindyTzu-Ling Huang; Anthony Errigo; Yingnan Yin; Jianfeng Lu; Melvin Ayala; Su-Chun Zhang
Journal:  Cell Stem Cell       Date:  2014-04-03       Impact factor: 24.633

4.  Characterization of thoracic motor and sensory neurons and spinal nerve roots in canine degenerative myelopathy, a potential disease model of amyotrophic lateral sclerosis.

Authors:  Brandie R Morgan; Joan R Coates; Gayle C Johnson; G Diane Shelton; Martin L Katz
Journal:  J Neurosci Res       Date:  2013-12-21       Impact factor: 4.164

5.  SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

Authors:  Maia Farrugia Wismayer; Andrew Farrugia Wismayer; Adrian Pace; Neville Vassallo; Ruben J Cauchi
Journal:  Eur J Hum Genet       Date:  2021-10-07       Impact factor: 5.351

6.  Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Authors:  Anna Bartoletti-Stella; Veria Vacchiano; Rocco Liguori; Sabina Capellari; 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
Journal:  J Neurol       Date:  2021-03-26       Impact factor: 4.849

7.  Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Authors:  Giulia Gentile; Benedetta Perrone; Giovanna Morello; Isabella Laura Simone; Sebastiano Andò; Sebastiano Cavallaro; Francesca Luisa Conforti
Journal:  Genes (Basel)       Date:  2021-11-23       Impact factor: 4.096
  7 in total

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