CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Neurobiology of Aging
Adriano ChiòChristian Lunetta

Abstract

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n = 64) and apparently sporadic ALS (n = 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ∼ 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

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Citations

Jan 1, 2016·Brain : a Journal of Neurology·Sylvie BannwarthVéronique Paquis-Flucklinger
Jan 1, 2016·Brain : a Journal of Neurology·Bin JiaoLu Shen
Jul 15, 2015·Brain : a Journal of Neurology·Oriol Dols-IcardoUNKNOWN Dementia Genetics Spanish Consortium (DEGESCO)
Jan 19, 2016·Brain Pathology·Mario SabatelliSerena Lattante
Apr 21, 2016·Neurobiology of Aging·Elisa TeyssouStéphanie Millecamps
Aug 1, 2015·Acta Neurologica Scandinavica·P PasanenM Auranen
Mar 31, 2016·Journal of Neurology·Nilo RivaAngelo Quattrini
Nov 5, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Sini PenttiläBjarne Udd
May 27, 2015·Current Neurology and Neuroscience Reports·Martin R Turner, Esther Verstraete
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Apr 2, 2020·Biological Chemistry·Siavash Khosravi, Max E Harner
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