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

Federica Perrone, Hung Phuoc Nguyen, Sara Van Mossevelde, Matthieu Moisse, ANNE SIEBEN, Patrick Santens UGent, Jan De Bleecker UGent, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Jonathan Baets, et al. (2017) NEUROBIOLOGY OF AGING. 51. p.177.e9-177.e16
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
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
journal title
NEUROBIOLOGY OF AGING
Neurobiol. Aging
volume
51
pages
177.e9 - 177.e16
Web of Science type
Article
Web of Science id
000397168600020
ISSN
0197-4580
DOI
10.1016/j.neurobiolaging.2016.12.008
language
English
UGent publication?
yes
classification
A1
additional info
the first two authors have contributed equally and are shared first author
copyright statement
I have transferred the copyright for this publication to the publisher
id
8507734
handle
http://hdl.handle.net/1854/LU-8507734
date created
2017-02-06 12:13:19
date last changed
2017-10-25 10:33:45
@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},
  keyword      = {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},
}

Chicago
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.
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.
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.
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.