C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population

Abramycheva, Natalya Y., Lysogorskaia, Elena V., Stepanova, Maria S., Zakharova, Maria N., Kovrazhkina, Elena A., Razinskaya, Olga D., Smirnov, Andrey P., Maltsev, Andrey V., Ustyugov, Alexey A., Kukharsky, Michail S., Khritankova, Inna V., Bachurin, Sergey O., Cooper-Knock, Johnathan, Buchman, Vladimir L. ORCID: https://orcid.org/0000-0002-7631-8352, Illarioshkin, Sergey N., Skvortsova, Veronika I. and Ninkina, Natalia ORCID: https://orcid.org/0000-0001-8570-5648 2015. C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population. Neurobiology of Aging 36 (10) , 2908.e5-2908.e9. 10.1016/j.neurobiolaging.2015.07.004

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Abstract

Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Biosciences
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords:	Amyotrophic lateral sclerosis; Mutation; Repeat expansion
Additional Information:	Available online 9 July 2015
Publisher:	Elsevier
ISSN:	0197-4580
Date of First Compliant Deposit:	30 March 2016
Date of Acceptance:	4 July 2015
Last Modified:	07 Nov 2023 01:35
URI:	https://orca.cardiff.ac.uk/id/eprint/76309

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