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Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger, Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis, Brain, Volume 137, Issue 12, December 2014, Page e312, https://doi.org/10.1093/brain/awu267
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Extract
Sir,
The letter to the editor from Johnson and colleagues provides new information confirming that mitochondrondrial dysfunction could be an important player contributing to the aetiology of amyotrophic lateral sclerosis (ALS) through the involvement of the CHCHD10 gene. We first identified four patients harbouring a mutation in this gene among a total population of 116 individuals presenting with ALS-frontotemporal dementia (FTD) (Bannwarth et al., 2014; Chaussenot et al., 2014). Then, whole exome sequencing in 102 German and 26 Nordic patients with pure ALS led to the identification of three families in which a CHCHD10 mutation segregates with the disease (Müeller et al., 2014). In their study, Johnson and colleagues showed that CHCHD10 is responsible for five novel cases among a cohort of 85 patients with familial ALS. All these data confirm the clinical, molecular and mechanistic continuum between FTD and ALS and raise the intriguing prospect of an underlying mitochondrial basis for this group of disorders.
