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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

(2017) NEUROBIOLOGY OF AGING. 51. p.177.e9-177.e16
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Abstract
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosise-(ALS) and fronto-temporal dementiae-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p. Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p. Pro34Ser, p. Pro80Leu, and p. Pro96Thr) that were also present in the matched control series. In TUBA4A, we detected a novel frameshift mutation (p. Arg64Glyfs* 90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p. Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/ 429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation. The present study confirms the role of CHCHD10 and TUBA4A in the FTD-ALS spectrum, although genetic variations in these 2 genes are extremely rare in the Belgian population and often associated with symptomatology of related neurodegenerative diseases including Parkinson's disease and Alzheimer's disease.
Keywords
Amyotrophic lateral sclerosis (ALS), Frontotemporal dementia (FTD), CHCHD10, TUBA4A, AMYOTROPHIC-LATERAL-SCLEROSIS, FRONTOTEMPORAL LOBAR DEGENERATION, MOTOR-NEURON DISEASE, REPEAT EXPANSION, FAMILIAL ALS, HEXANUCLEOTIDE REPEAT, MUTATIONS, DEMENTIA, C9ORF72, CRITERIA

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Citation

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MLA
Perrone, Federica, Hung Phuoc Nguyen, Sara Van Mossevelde, et al. “Investigating the Role of ALS Genes CHCHD10 and TUBA4A in Belgian FTD-ALS Spectrum Patients.” NEUROBIOLOGY OF AGING 51 (2017): 177.e9–177.e16. Print.
APA
Perrone, F., Nguyen, H. P., Van Mossevelde, S., Moisse, M., Sieben, A., Santens, P., De Bleecker, J., et al. (2017). Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. NEUROBIOLOGY OF AGING, 51, 177.e9–177.e16.
Chicago author-date
Perrone, Federica, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, et al. 2017. “Investigating the Role of ALS Genes CHCHD10 and TUBA4A in Belgian FTD-ALS Spectrum Patients.” Neurobiology of Aging 51: 177.e9–177.e16.
Chicago author-date (all authors)
Perrone, Federica, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, Anne Sieben, Patrick Santens, Jan De Bleecker, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P De Deyn, Jean-Jacques Martin, Philip Van Damme, Christine Van Broeckhoven, and Julie van der Zee. 2017. “Investigating the Role of ALS Genes CHCHD10 and TUBA4A in Belgian FTD-ALS Spectrum Patients.” Neurobiology of Aging 51: 177.e9–177.e16.
Vancouver
1.
Perrone F, Nguyen HP, Van Mossevelde S, Moisse M, Sieben A, Santens P, et al. Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. NEUROBIOLOGY OF AGING. 2017;51:177.e9–177.e16.
IEEE
[1]
F. Perrone et al., “Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients,” NEUROBIOLOGY OF AGING, vol. 51, pp. 177.e9-177.e16, 2017.
@article{8507734,
  abstract     = {Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosise-(ALS) and fronto-temporal dementiae-(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p. Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p. Pro34Ser, p. Pro80Leu, and p. Pro96Thr) that were also present in the matched control series. In TUBA4A, we detected a novel frameshift mutation (p. Arg64Glyfs* 90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p. Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/ 429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation. The present study confirms the role of CHCHD10 and TUBA4A in the FTD-ALS spectrum, although genetic variations in these 2 genes are extremely rare in the Belgian population and often associated with symptomatology of related neurodegenerative diseases including Parkinson's disease and Alzheimer's disease.},
  author       = {Perrone, Federica and Nguyen, Hung Phuoc and Van Mossevelde, Sara and Moisse, Matthieu and Sieben, Anne and Santens, Patrick and De Bleecker, Jan and Vandenbulcke, Mathieu and Engelborghs, Sebastiaan and Baets, Jonathan and Cras, Patrick and Vandenberghe, Rik and De Jonghe, Peter and De Deyn, Peter P and Martin, Jean-Jacques and Van Damme, Philip and Van Broeckhoven, Christine and van der Zee, Julie},
  issn         = {0197-4580},
  journal      = {NEUROBIOLOGY OF AGING},
  keywords     = {Amyotrophic lateral sclerosis (ALS),Frontotemporal dementia (FTD),CHCHD10,TUBA4A,AMYOTROPHIC-LATERAL-SCLEROSIS,FRONTOTEMPORAL LOBAR DEGENERATION,MOTOR-NEURON DISEASE,REPEAT EXPANSION,FAMILIAL ALS,HEXANUCLEOTIDE REPEAT,MUTATIONS,DEMENTIA,C9ORF72,CRITERIA},
  language     = {eng},
  pages        = {177.e9--177.e16},
  title        = {Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients},
  url          = {http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.008},
  volume       = {51},
  year         = {2017},
}

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