Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array

Autor: Jennifer Harris, James Lowe, David M. A. Mann, Bernadette McGuinness, Kevin Morgan, Reinhard Heun, Janet A. Johnston, Jose Bras, A. David Smith, Imelda Barber, Nigel M. Hooper, Anna Richardson, Tulsi Patel, Emma R.L.C. Vardy, Peter Passmore, Matthew Jones, Heike Kölsch, David Craig, Clive Holmes, Stuart Pickering-Brown, Donald Warden, Patrick G. Kehoe, Naomi Clement, Anne Braae, Christopher Medway, Andrew B. Singleton, Stephen Todd, Dena G. Hernandez, Julie S. Snowden, Sally Chappell, Keeley J. Brookes, John Hardy, Tamar Guetta-Baranes, David Neary, Rita Guerreiro, Gordon K. Wilcock
Jazyk: angličtina
Rok vydání: 2017
Předmět:
0301 basic medicine
Aging
Parkinson's disease
Alzheimer's Disease
Parkinson's Disease
Sporadic
Early-onset
NeuroX
Screening
Ubiquitin-Protein Ligases
DNA Mutational Analysis
tau Proteins
Disease
Biology
Article
03 medical and health sciences
0302 clinical medicine
Alzheimer Disease
Genetic variation
medicine
Humans
Genetic Predisposition to Disease
Early-onset Alzheimer's disease
Genetic Testing
Genetic Association Studies
Oligonucleotide Array Sequence Analysis
Genetic testing
Genetics
medicine.diagnostic_test
screening
General Neuroscience
Neurodegeneration
Genetic Variation
Parkinson Disease
medicine.disease
NeuroX
030104 developmental biology
sporadic
Parkinson’s disease
Mutation testing
early-onset
Neurology (clinical)
Geriatrics and Gerontology
Alzheimer's disease
Alzheimer’s disease
030217 neurology & neurosurgery
Developmental Biology
Zdroj: Barber, I S, Braae, A, Clement, N, Patel, T, Guetta-Baranes, T, Brookes, K, Medway, C, Chappell, S, Guerreiro, R, Bras, J, Hernandez, D, Singleton, A, Hardy, J, Mann, D M, Passmore, P, Craig, D, Johnston, J, McGuinness, B, Todd, S, Heun, R, Kölsch, H, Kehoe, P G, Vardy, E R L C, Hooper, N M, Pickering-Brown, S, Snowden, J, Richardson, A, Jones, M, Neary, D, Harris, J, Lowe, J, Smith, A D, Wilcock, G K, Warden, D, Holmes, C & Morgan, K 2017, ' Mutation Analysis of Sporadic Early-Onset Alzheimer’s Disease using the NeuroX Array ', Neurobiology of Aging, vol. 49, pp. 215.e1-215.e8 . https://doi.org/10.1016/j.neurobiolaging.2016.09.008
ISSN: 0197-4580
1558-1497
Popis: 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.
Databáze: OpenAIRE
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