Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients |
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| Affiliation: | 1. Department of Biochemistry and Molecular Biology, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain;2. Department of Biochemistry, Genetics and Immunology, University of Vigo, 36200 Vigo, Spain;3. Service of Ophtalmology, University Hospital Complex of Santiago de Compostela, SERGAS, Santiago de Compostela, Spain;4. Obesidomics Group, IDIS (Health Research Institute of Santiago de Compostela), SERGAS, Santiago de Compostela, Spain;1. McMaster Children''s Hospital, Hamilton, ON, Canada;2. GeneDx, Gaithersburg, MD, USA;1. Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, South Korea;2. Department of Psychiatry, University of Oxford, Warneford Hospital, Oxford, UK;3. Clinical Research Management Team, Ilsan hospital, National Health Insurance Service, Goyang-shi, South Korea;4. Department of Neurology, Dementia Center, Ilsan hospital, National Health Insurance Service, Goyang-shi, South Korea |
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| Abstract: | Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment. CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions. However, the exact contribution of CHCHD10 in FTD and ALS diseases spectrum remains unknown. In this study, we evaluated the frequency of CHCHD10 mutations in 115 patients with FTD and FTD-ALS phenotypes. We identified 2 heterozygous variants in 3 unrelated probands presenting FTD and ALS, characterized by early and predominant bulbar symptoms. This study demonstrates the implication of CHCHD10 in FTD and ALS spectrum. Although the frequency of mutations is low in this series (2.6%), our work suggests that CHCHD10 mutations should be searched particularly when bulbar symptoms are present at onset. |
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| Keywords: | Frontotemporal lobar degeneration (FTLD) Frontotemporal dementia (FTD) Amyotrophic lateral sclerosis (ALS) CHCHD10 Mitochondrial disease |
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