A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

J van der Zee, I Gijselinck, L Dillen… - Human …, 2013 - Wiley Online Library
We assessed the geographical distribution of C9orf72 G 4 C 2 expansions in a pan‐E
uropean frontotemporal lobar degeneration (FTLD) cohort (n= 1,205), ascertained by the E …

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

T Van Langenhove, J Van Der Zee, I Gijselinck… - JAMA …, 2013 - jamanetwork.com
Objective To characterize patients with frontotemporal lobar degeneration (FTLD) with a
repeat expansion mutation in the gene C9orf72, and to determine whether there are …

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

C Dobson-Stone, M Hallupp, L Bartley, CE Shepherd… - Neurology, 2012 - AAN Enterprises
Objective: To determine the frequency of a hexanucleotide repeat expansion in C9ORF72, a
gene of unknown function implicated in frontotemporal dementia (FTD) and amyotrophic …

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues

IOC Woollacott, S Mead - Acta neuropathologica, 2014 - Springer
The discovery of the C9ORF72 hexanucleotide repeat expansion in 2011 and the immediate
realisation of a remarkably high prevalence in both familial and sporadic frontotemporal …

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions

EL Van Der Ende, JL Jackson, A White… - Journal of Neurology …, 2021 - jnnp.bmj.com
Since the discovery of the C9orf72 repeat expansion as the most common genetic cause of
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis, it has increasingly been …

C9ORF72 hexanucleotide expansions of 20–22 repeats are associated with frontotemporal deterioration

E Gómez-Tortosa, J Gallego, R Guerrero-López… - Neurology, 2013 - AAN Enterprises
Objective: Expansions of more than 30 hexanucleotide repetitions in the C9ORF72 gene are
a common cause of frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS) …

[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

E Majounie, AE Renton, K Mok, EGP Dopper… - The Lancet …, 2012 - thelancet.com
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a …

I Gijselinck, T Van Langenhove, J van der Zee… - The Lancet …, 2012 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration
(FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease …

[HTML][HTML] The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

J Cooper-Knock, PJ Shaw, J Kirby - Acta neuropathologica, 2014 - Springer
Abstract The GGGGCC (G 4 C 2) repeat expansion in C9ORF72 is the most common cause
of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and …

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

ASL Ng, EK Tan - Journal of medical genetics, 2017 - jmg.bmj.com
C9orf72 repeat expansions is a major cause of familial frontotemporal dementia (FTD) and
amyotrophic lateral sclerosis (ALS) worldwide. Sizes of< 20 hexanucleotide repeats are …