CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy
Godelieve Morel Medical student
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
Search for more papers by this authorCécile Rouzier MD, PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorAnnabelle Chaussenot MD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorSamira Ait-El-Mkadem PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorSylvie Bannwarth PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorEmmanuelle C. Genin PhD
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorGaëlle Augé
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorBrigitte Chabrol MD, PhD
Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, Marseille, France
Search for more papers by this authorJean Pouget MD, PhD
Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France
Search for more papers by this authorMarie Hélène Soriani MD
National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France
Search for more papers by this authorSabrina Sacconi MD, PhD
National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France
Search for more papers by this authorVéronique Paquis-Flucklinger MD, PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorGodelieve Morel Medical student
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
Search for more papers by this authorCécile Rouzier MD, PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorAnnabelle Chaussenot MD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorSamira Ait-El-Mkadem PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorSylvie Bannwarth PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorEmmanuelle C. Genin PhD
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorGaëlle Augé
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this authorBrigitte Chabrol MD, PhD
Department of Neuropediatrics, Timone Hospital, Marseille Teaching Hospital, Marseille, France
Search for more papers by this authorJean Pouget MD, PhD
Department of Neurology, Timone Hospital, Marseille Teaching Hospital, Marseille, France
Search for more papers by this authorMarie Hélène Soriani MD
National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France
Search for more papers by this authorSabrina Sacconi MD, PhD
National Center for Neuromuscular Disorders, Nice Teaching Hospital, Nice, France
Search for more papers by this authorVéronique Paquis-Flucklinger MD, PhD
Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France
IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, Nice, France
Search for more papers by this author
References
- 1 Penttilä S, Jokela M, Bouquin H, et al. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol 2015; 77: 163–172.
- 2 Bannwarth S, Ait-El-Mkadem S, Chaussenot A, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014; 137: 2329–2345.
- 3 Chaussenot A, Le Ber I, Ait-El-Mkadem S, et al. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in FTD-ALS. Neurobiol Aging 2014; 35: 2884.e1–e4. doi: 10.1016/j.neurobiolaging.2014.07.022.
- 4 Müller K, Andersen P, Hübers A, et al. Two novel mutations in conserved codons indicate that CHCHD10 is a motor neuron disease gene. Brain 2014; 137: e309. doi: 10.1093/brain/awu227.
- 5 Auranen M, Ylikallio E, Shcherbii M, et al. CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease. Neurol Genet 1e1. doi: 10.212/NXG.0000000000000003.
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