Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array
We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals harbouring a known causative variant in PARK2 known...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
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Elsevier
2017
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| Online Access: | https://eprints.nottingham.ac.uk/36987/ |
| _version_ | 1848795370178478080 |
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| author | Barber, Imelda S. Braae, Anne Clement, Naomi Patel, Tulsi Guetta-Baranes, Tamar Brookes, Keeley Medway, Christopher Chappell, Sally Guerreiro, Rita Bras, Jose Hernandez, Dena Singleton, Andrew Hardy, John Mann, David M. Morgan, Kevin |
| author_facet | Barber, Imelda S. Braae, Anne Clement, Naomi Patel, Tulsi Guetta-Baranes, Tamar Brookes, Keeley Medway, Christopher Chappell, Sally Guerreiro, Rita Bras, Jose Hernandez, Dena Singleton, Andrew Hardy, John Mann, David M. Morgan, Kevin |
| author_sort | Barber, Imelda S. |
| building | Nottingham Research Data Repository |
| collection | Online Access |
| description | We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals harbouring a known causative variant in PARK2 known to cause early-onset Parkinson’s disease (EOPD); p.T240M (n=1) and p.Q34fs delAG (n=1). Additionally, we identified three sEOAD individuals harbouring a predicted pathogenic variant in MAPT (p.A469T) which has previously been associated with AD. It is currently unknown if these variants affect susceptibility to sEOAD, further studies would be needed to establish this. This work highlights the need to screen sEOAD individuals for variants that are more classically attributed to other forms of neurodegeneration. |
| first_indexed | 2025-11-14T19:31:00Z |
| format | Article |
| id | nottingham-36987 |
| institution | University of Nottingham Malaysia Campus |
| institution_category | Local University |
| last_indexed | 2025-11-14T19:31:00Z |
| publishDate | 2017 |
| publisher | Elsevier |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | nottingham-369872020-05-04T18:28:47Z https://eprints.nottingham.ac.uk/36987/ Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array Barber, Imelda S. Braae, Anne Clement, Naomi Patel, Tulsi Guetta-Baranes, Tamar Brookes, Keeley Medway, Christopher Chappell, Sally Guerreiro, Rita Bras, Jose Hernandez, Dena Singleton, Andrew Hardy, John Mann, David M. Morgan, Kevin We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals harbouring a known causative variant in PARK2 known to cause early-onset Parkinson’s disease (EOPD); p.T240M (n=1) and p.Q34fs delAG (n=1). Additionally, we identified three sEOAD individuals harbouring a predicted pathogenic variant in MAPT (p.A469T) which has previously been associated with AD. It is currently unknown if these variants affect susceptibility to sEOAD, further studies would be needed to establish this. This work highlights the need to screen sEOAD individuals for variants that are more classically attributed to other forms of neurodegeneration. Elsevier 2017-01-31 Article PeerReviewed Barber, Imelda S., Braae, Anne, Clement, Naomi, Patel, Tulsi, Guetta-Baranes, Tamar, Brookes, Keeley, Medway, Christopher, Chappell, Sally, Guerreiro, Rita, Bras, Jose, Hernandez, Dena, Singleton, Andrew, Hardy, John, Mann, David M. and Morgan, Kevin (2017) Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging, 49 . 215.e1-215.e8. ISSN 1558-1497 Alzheimer's Disease Parkinson's Disease Sporadic Early-onset NeuroX Screening http://www.sciencedirect.com/science/article/pii/S0197458016302214 doi:10.1016/j.neurobiolaging.2016.09.008 doi:10.1016/j.neurobiolaging.2016.09.008 |
| spellingShingle | Alzheimer's Disease Parkinson's Disease Sporadic Early-onset NeuroX Screening Barber, Imelda S. Braae, Anne Clement, Naomi Patel, Tulsi Guetta-Baranes, Tamar Brookes, Keeley Medway, Christopher Chappell, Sally Guerreiro, Rita Bras, Jose Hernandez, Dena Singleton, Andrew Hardy, John Mann, David M. Morgan, Kevin Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title | Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title_full | Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title_fullStr | Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title_full_unstemmed | Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title_short | Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array |
| title_sort | mutation analysis of sporadic early-onset alzheimer's disease using the neurox array |
| topic | Alzheimer's Disease Parkinson's Disease Sporadic Early-onset NeuroX Screening |
| url | https://eprints.nottingham.ac.uk/36987/ https://eprints.nottingham.ac.uk/36987/ https://eprints.nottingham.ac.uk/36987/ |