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Matrin 3 variants are frequent in Italian ALS patients

Lookup NU author(s): Professor Giorgio TascaORCiD


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© 2016 Elsevier Inc.Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Recently, missense variants in MATR3 were identified in familial and sporadic ALS patients, but very few additional ALS patients have been reported so far. The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. Here, we assessed the contribution of MATR3 variants in a cohort of 322 Italian ALS patients. We identified 5 different missense MATR3 variants (p.Q66K, p.G153C, p.E664A, p.S707L, and p.N787S) in 6 patients (1.9%). None of our patients showed signs of myopathy at electrophysiological examination. Muscle biopsy, performed in 2 patients, showed neurogenic changes and normal nuclear staining with anti-matrin 3 antibody. Our results confirm that MATR3 variants are associated with ALS and suggest that they are more frequent in Italian ALS patients. Further studies are needed to elucidate the pathogenic significance of identified variants in sporadic and familial ALS.

Publication metadata

Author(s): Marangi G, Lattante S, Doronzio PN, Conte A, Tasca G, Monforte M, Patanella AK, Bisogni G, Meleo E, La Spada S, Zollino M, Sabatelli M

Publication type: Article

Publication status: Published

Journal: Neurobiology of Aging

Year: 2017

Volume: 49

Pages: 218.e1-218.e7

Print publication date: 01/01/2017

Online publication date: 06/10/2016

Acceptance date: 29/09/2016

ISSN (print): 0197-4580

ISSN (electronic): 1558-1497

Publisher: Elsevier Inc.


DOI: 10.1016/j.neurobiolaging.2016.09.023

PubMed id: 28029397


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