Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
2015; Oxford University Press; Volume: 138; Issue: 12 Linguagem: Inglês
10.1093/brain/awv175
ISSN1460-2156
AutoresOriol Dols‐Icardo, Irene Nebot, Ana Gorostidi, Sara Ortega‐Cubero, Isabel de la Torre Díez, Ricard Rojas‐García, Alberto García‐Redondo, Mónica Povedano, Albert Lladó, Victoria Álvarez, Pascual Sánchez‐Juan, Julio Pardo, Ivonne Jericó, Juan F. Vázquez‐Costa, Teresa Sevilla, Fernando Cardona, Begoña Indakoechea, Fermín Moreno, Roberto Fernández‐Torrón, Laia Muñoz, Sonia Moreno‐Grau, Maitée Rosende‐Roca, Álvaro Vela, José Luis Muñoz‐Blanco, Onofre Combarros, Eliécer Coto, Daniel Alcolea, Juan Fortea, Alberto Lleó, Raquel Sánchez‐Valle, Jesús Esteban‐Pérez, Agustı́n Ruiz, Pau Pástor, Adolfo López de Munaín, Jordi Pèrez‐Tur, Jordi Clarimón,
Tópico(s)Mitochondrial Function and Pathology
ResumoSir, Recently, a study identified a mutation (c.176C>T, p.S59L) in the CHCHD10 gene as a cause of amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in a large pedigree with mixed phenotypes encompassing ALS, FTD, cerebellar ataxia and mitochondrial myopathy (Bannwarth et al. , 2014).The same mutation was also found in a second kindred suffering from ALS, FTD and/or parkinsonian signs by the same authors. Additional mutations (p.R15L, p.P34S, p.G66V and p.P80L) have been subsequently reported in ALS and FTD with motor neuron disease (FTD-MND) patients (Chaussenot et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015; Ronchi et al. 2015; Chio et al. , 2015). More recently, exon 2 of the CHCHD10 gene has been sequenced in a cohort of ALS, FTD, Parkinson's disease and Alzheimer’s dementia, revealing two novel mutations (p.P23T and p.A35D) in two patients with FTD (Zhang et al. , 2015). Importantly, some of these screenings have not included neurologically healthy individuals from the same geographic origin (Bannwarth et al. , 2014; Johnson et al. , 2014; Muller et al. , 2014; Kurzwelly et al. , 2015) and therefore, the real allele diversity within CHCHD10 might have been missed. This could have important consequences in terms of establishing firm …
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