Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

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

doi:10.1093/brain/awv015

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12.

Authors

Sylvie Bannwarth¹, Samira Ait-El-Mkadem¹, Annabelle Chaussenot¹, Emmanuelle C Genin², Sandra Lacas-Gervais³, Konstantina Fragaki¹, Laetitia Berg-Alonso², Yusuke Kageyama⁴, Valérie Serre⁵, David Moore⁶, Annie Verschueren⁷, Cécile Rouzier¹, Isabelle Le Ber⁸, Gaëlle Augé¹, Charlotte Cochaud⁹, Françoise Lespinasse², Karine N'Guyen¹⁰, Anne de Septenville¹¹, Alexis Brice¹¹, Patrick Yu-Wai-Man¹², Hiromi Sesaki⁴, Jean Pouget⁷, Véronique Paquis-Flucklinger¹³

Affiliations

¹ 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
² 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France.
³ 3 Joint Centre for Applied Electron Microscopy, Nice Sophia-Antipolis University, France.
⁴ 4 Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
⁵ 5 UMR7592 CNRS, Jacques Monod Institute, Paris Diderot University, France.
⁶ 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
⁷ 7 Department of Neurology, Timone Hospital, Marseille Teaching Hospital, France.
⁸ 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France 9 National Reference Centre on Rare Dementias, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
⁹ 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France.
¹⁰ 10 Department of Medical Genetics, Timone Hospital, Marseille Teaching Hospital, France.
¹¹ 8 Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, Institut du Cerveau et de la Moelle épinière (ICM), F-75013 Paris, France.
¹² 6 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK 11 Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK.
¹³ 1 IRCAN, UMR CNRS 7284/INSERM U1081/UNS, School of Medicine, Nice Sophia-Antipolis University, France 2 Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France paquis@hermes.unice.fr.

No abstract available

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Amyotrophic Lateral Sclerosis / etiology*
DNA, Mitochondrial / genetics*
Female
Frontotemporal Dementia / etiology*
Humans
Male
Mitochondria / pathology*
Mitochondrial Diseases / complications*
Mitochondrial Proteins / genetics*

Substances

DNA, Mitochondrial
Mitochondrial Proteins

Publication types

MeSH terms

Substances

Grants and funding