Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: No evidence for pathogenicity of the p.P34S variant

Brain

Volumn 139, Issue 2, 2016, Pages e8-

  Marroquin, Nicolai ^a   Stranz, Sebastian ^a   Müller, Kathrin ^a   Wieland, Thomas ^b   Ruf, Wolfgang P ^a   Brockmann, Sarah J ^a   Danzer, Karin M ^a   Borck, Guntram ^a   Hübers, Annemarie ^a   Weydt, Patrick ^a   Meitinger, Thomas ^b   Strom, Tim Matthias ^b   Rosenbohm, Angela ^a   Ludolph, Albert C ^a   Weishaupt, Jochen H ^a  

^a UNIVERSITY OF ULM   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; COILED COIL HELIX COILED COIL HELIX DOMAIN CONTAINING PROTEIN 10 GENE; EXOME; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; LETTER; MEDIAN SURVIVAL TIME; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; COMPLICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETICS; MALE; MITOCHONDRION; PATHOLOGY;

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; DNA, MITOCHONDRIAL; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS;

EID: 84977097899     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv218     Document Type: Letter

References (9)

1. Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki A, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014; 137: 2329-45
2. Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, et al. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. Neurobiol Aging 2014; 35: 2884.e1-4
3. Chio A, Mora G, Sabatelli M, Caponnetto C, Traynor BJ, Johnson JO, et al. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2015; 36: 1767.e3-6
4. Dobson-Stone C, Shaw AD, Hallupp M, Bartley L, McCann H, Brooks WS, et al. Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Brain 2015, May 7
5. Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, et al. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 2014; 137: e311
6. Kurzwelly D, Kruger S, Biskup S Heneka MT. A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. Brain 2015, Feb 12
7. Müller K, Andersen PM, Hübers A, Marroquin N, Volk AE, Danzer KM, et al. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 2014; 137: e309
8. Penttila S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol 2015; 77: 163-72
9. Ronchi D, Riboldi G, Del Bo R, Ticozzi N, Scarlato M, Galimberti D, et al. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. Brain 2015, Jan 8.