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Corrigendum to 'Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.' [Neurobiol. Aging 51 (2017) 178.e11-178.e20]
- Source :
- Neurobiology of Aging
- Publication Year :
- 2017
-
Abstract
- Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant. Loss-of-function variants were found in TBK1 in 3 cases and no controls and, separately, in NEK1 in 3 cases and no controls. This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population.
- Subjects :
- Adult
Male
0301 basic medicine
Aging
Adolescent
Genotype
TBK1
Population
Disease
Protein Serine-Threonine Kinases
Biology
Young Adult
03 medical and health sciences
medicine
Humans
Genetic Report Abstract
Genetic Predisposition to Disease
Motor neuron disease
Age of Onset
education
Genetic Association Studies
Aged
Aged, 80 and over
education.field_of_study
General Neuroscience
Genetic Variation
Middle Aged
Motor neuron
Amyotrophic lateral sclerosis
NEK1
NIMA-Related Kinase 1
Phenotype
030104 developmental biology
medicine.anatomical_structure
Scotland
Genetic epidemiology
Female
Neurology (clinical)
Geriatrics and Gerontology
Corrigendum
Neuroscience
Developmental Biology
Subjects
Details
- ISSN :
- 15581497
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Neurobiology of aging
- Accession number :
- edsair.doi.dedup.....d681fb7de803fec5e67b4ec508eaaabb