Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: An Australian trio study

NeuroReport

Volumn 23, Issue 9, 2012, Pages 556-559

  Pamphlett, Roger ^a   Cheong, Pak Leng ^b   Trent, Ronald J ^b   Yu, Bing ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

amyotrophic lateral sclerosis; C9orf72 hexanucleotide repeat; de novo mutation; motor neuron disease; penetrance; sporadic; trio study; unstable repeat

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUSTRALIA; BLOOD ANALYSIS; BLOOD SAMPLING; C9ORF72 HEXANUCLEOTIDE REPEAT; CLINICAL ARTICLE; DEMENTIA; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC ANALYSIS; GRANDPARENT; HEREDITY; HUMAN; MALE; NUCLEOTIDE REPEAT; PARENT; PRIORITY JOURNAL; PROGRESSIVE BULBAR PALSY; PROGRESSIVE MUSCULAR ATROPHY; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; AUSTRALIA; COHORT STUDIES; DNA; DNA REPEAT EXPANSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; PROTEINS;

EID: 84861446524     PISSN: 09594965     EISSN: 1473558X     Source Type: Journal    
DOI: 10.1097/WNR.0b013e3283544718     Document Type: Article

References (11)

1. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 2011; 72:257-268
2. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 2011; 72:245-256
3. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study Lancet Neurol 2012; 11:323-330
4. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, et al A C9orf72 promoter repeat expansion in a Flanders- Belgian cohort with disorders of the frontotemporal lobar degenerationamyotrophic lateral sclerosis spectrum: a gene identification study Lancet Neurol 2012; 11:54-65
5. Pamphlett R, Morahan JM, Yu B Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases J Neurosci Methods 2011; 197:297-301
6. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al Amyotrophic lateral sclerosis Lancet 2011; 377:942-955
7. Boeve BF, Boylan KB, Graff-Radford NR, Dejesus-Hernandez M, Knopman DS, Pedraza O, et al Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Brain 2012; 135:765-783
8. Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, et al Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 Brain 2012; 135:784-793
9. Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, et al Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 Brain 2012; 135:751-764
10. Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, et al Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study Lancet Neurol 2012; 11:232-240
11. Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, et al Repeat expansion in C9ORF72 in Alzheimer's disease N Engl J Med 2012; 366:283-284