Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

Movement Disorders

Volumn 29, Issue 6, 2014, Pages 827-830

  Nuytemans, Karen ^a   Inchausti, Vanessa ^a   Beecham, Gary W ^a   Wang, Liyong ^a   Dickson, Dennis W ^b   Trojanowski, John Q ^c   Lee, Virginia M Y ^c   Mash, Deborah C ^a   Frosch, Matthew P ^d   Foroud, Tatiana M ^e   Honig, Lawrence S ^f   Montine, Thomas J ^g   Dawson, Ted M ^h   Martin, Eden R ^a   Scott, William K ^a   Vance, Jeffery M ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f Vagelos College of Physicians and Surgeons   (United States)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autopsy confirmed; C9ORF72 repeat; Parkinson's disease; Parkinsonism

Indexed keywords

ALLELE; ARTICLE; AUTOPSY; C9ORF72 GENE; CONTROLLED STUDY; GENE; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PARKINSONISM; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTANTIA NIGRA; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; PROCEDURES; RISK FACTOR; TRINUCLEOTIDE REPEAT;

C9ORF72 PROTEIN, HUMAN; PROTEIN;

AUTOPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; PARKINSON DISEASE; PROTEINS; RISK FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84899947813     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25838     Document Type: Article

References (38)

1. Fahn S. Description of Parkinson's disease as a clinical syndrome. Ann N Y Acad Sci 2003;991:1-14.
2. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-184.
3. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
4. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
5. Beck J, Poulter M, Hensman D, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 2013;92:345-353.
6. Rollinson S, Halliwell N, Young K, et al. Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease. Neurobiol Aging 2012;33:1846.e5-1846.e6.
7. Majounie E, Abramzon Y, Renton AE, et al. Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med 2012;366:283-284.
8. Harms M, Benitez BA, Cairns N, et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 2013;70:736-741.
9. Kohli MA, John-Williams K, Whitehead P, et al. Large repeat expansions in the C9ORF72 gene contribute to a spectrum of neurodegenerative disorders possibly including Alzheimer's disease. Neurobiol Aging 2013;34:1519.e5-1519.e12.
10. Cacace R, Van Cauwenberghe C, Bettens K, et al. C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment. Neurobiol Aging 2013;34:1712.e1-1712.e7.
11. Lesage S, Le Ber I, Condroyer C, et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 2013;136:385-391.
12. Xi Z, Zinman L, Grinberg Y, et al. Investigation of C9orf72 in 4 neurodegenerative disorders. Arch Neurol 2012;69:1583-1590.
13. Yeh TH, Lai SC, Weng YH, et al. Screening for C9orf72 repeat expansions in parkinsonian syndromes. Neurobiol Aging 2013;34:1311.e3-1311.e4.
14. Akimoto C, Forsgren L, Linder J, et al. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:26-29.
15. Lindquist SG, Duno M, Batbayli M, et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013;83:279-283.
16. Nuytemans K, Bademci G, Kohli MM, et al. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 2013 Jul 12. doi: 10.1111/ahg.12033.
17. McKeith IG. Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop. J Alzheimers Dis 2006;9:417-423.
18. van der Zee J, Gijselinck I, Dillen L, et al. A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013;34:363-373.
19. Majounie E, Renton AE, Mok K, 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.
20. Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012;11:54-65.
21. Simon-Sanchez J, Dopper EG, Cohn-Hokke PE, et al. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012;135:723-735.
22. Cooper-Knock J, Hewitt C, Highley JR, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain 2012;135:751-764.
23. Sabatelli M, Conforti FL, Zollino M, et al. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging 2012;33:1848.e15-1848.e20.
24. Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic greek ALS patients. Neurobiol Aging 2012;33:1851.e1-1851.e5.
25. Ferrari R, Mok K, Moreno JH, et al. Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 2012;33:1850.e1-1850.e11.
26. Millecamps S, Boillee S, Le Ber I, et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J Med Genet 2012;49:258-263.
27. Byrne S, Elamin M, Bede P, 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.
28. Daoud H, Noreau A, Rochefort D, et al. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiol Aging 2013;34:1710.e7-1710.e9.
29. Dobson-Stone C, Hallupp M, Bartley L, et al. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 2012;79:995-1001.
30. Ratti A, Corrado L, Castellotti B, et al. C9ORF72 repeat expansion in a large italian ALS cohort: evidence of a founder effect. Neurobiol Aging 2012;33:2528.e7-2528.14.
31. Rutherford NJ, Heckman MG, Dejesus-Hernandez M, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 2012;33:2950.e5-2950.e7.
32. van Rheenen W, van Blitterswijk M, Huisman MH, et al. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology 2012;79:878-882.
33. Annan M, Beaufils É, Viola UC, Vourc'h HP, Hommet C, Mondon K. Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment. BMC Res Notes 2013;6:343.
34. Cooper-Knock J, Frolov A, Highley JR, et al. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology 2013;81:808-811.
35. Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, et al. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord 2013;19:198-201.
36. Harms MB, Neumann D, Benitez BA, et al. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 2013;34:1519.e1-1519.e2.
37. Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 2013;33:2527.e1-2527.e2.
38. Sonnen JA, Santa Cruz K, Hemmy LS, et al. Ecology of the aging human brain. Arch Neurol 2011;68:1049-1056.