C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China

Frontiers in Cellular Neuroscience

Volumn , Issue SEP, 2013, Pages

  Jiao, Bin ^a   Guo, Ji Feng ^a,b,c   Wang, Ya Qin ^a   Yan, Xin Xiang ^a,c   Zhou, Lin ^a,c   Liu, Xiao Yan ^a   Zhang, Fu Feng ^a,c   Zhou, Ya Fang ^a,c   Xia, Kun ^b,c   Tang, Bei Sha ^a,b,c   Shen, Lu ^a,b,c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b State Key Laboratory of Medical Genetics   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Alzheimer's disease; C9orf72; Essential tremor; Parkinson's disease; Risk factor

Indexed keywords

ADULT; ALZHEIMER DISEASE; ARTICLE; C9ORF72 GENE; CHINA; COHORT ANALYSIS; CONTROLLED STUDY; DNA STRUCTURE; ESSENTIAL TREMOR; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HEXANUCLEOTIDE REPEAT EXPANSION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPSYCHOLOGICAL TEST; ONSET AGE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PREVALENCE; RISK FACTOR;

EID: 84885047459     PISSN: 16625102     EISSN: None     Source Type: Journal    
DOI: 10.3389/fncel.2013.00164     Document Type: Article

References (32)

1. Arighi, A., Fumagalli, G. G., Jacini, F., Fenoglio, C., Ghezzi, L., Pietroboni, A. M., et al. (2012). Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations. J. Alzheimers Dis. 31, 447-452.
2. Boeve, B. F., Boylan, K. B., GraffRadford, N. R., Dejesus-Hernandez, M., Knopman, D. S., Pedraza, O., et al. (2012). Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain 135, 765-783. doi: 10.1093/brain/aws004
3. Cacace, R., Van Cauwenberghe, C., Bettens, K., Gijselinck, I., Van Der Zee, J., Engelborghs, S., et al. (2013). C9orf72 G(4)C(2) repeat expansions in Alzheimer's disease and mild cognitive impairment. Neurobiol. Aging 34, 1712. e1-1712. e7. doi: 10.1016/ j.neurobiolaging.2012.12.019
4. Dejesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., et al. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256. doi: 10.1016/j.neuron.2011.09.011
5. Dejesus-Hernandez, M., Rayaprolu, S., Soto-Ortolaza, A. I., Rutherford, N. J., Heckman, M. G., Traynor, S., et al. (2013). Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat. Disord. 19, 198-201. doi: 10.1016/j.parkreldis. 2012.09.013
6. Dubois, B., Burn, D., Goetz, C., Aarsland, D., Brown, R. G., Broe, G. A., et al. (2007). Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task force. Mov. Disord. 22, 2314-2324. doi: 10.1002/mds.21844
7. Floris, G., Borghero, G., Cannas, A., Di Stefano, F., Costantino, E., Murru, M. R., et al. (2012). Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J. Neurol. 259, 1749-1751. doi: 10.1007/s00415-012-6444-3
8. Gijselinck, I., Van Langenhove, T., Van Der Zee, J., Sleegers, K., Philtjens, S., Kleinberger, G., et al. (2012). 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. 11, 54-65. doi: 10.1016/S1474-4422(11)70261-7
9. Hauser, P. S., and Ryan, R. O. (2013). Impact of apolipoprotein E on Alzheimer's disease. Curr. Alzheimer Res.[Epub ahead of print].
10. Hsiung, G. Y., Dejesus-Hernandez, M., Feldman, H. H., Sengdy, P., Bouchard-Kerr, P., Dwosh, E., et al. (2012). Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135, 709-722. doi: 10.1093/brain/awr354
11. Hudson, A. J. (1981). Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. Brain 104, 217-247. doi: 10.1093/brain/ 104.2.217
12. Hughes, A. J., Daniel, S. E., Kilford, L., and Lees, A. J. (1992). Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatr. 55, 181-184. doi: 10.1136/jnnp.55.3.181
13. Jang, J. H., Kwon, M. J., Choi, W. J., Oh, K. W., Koh, S. H., Ki, C. S., et al. (2013). Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 34, 1311. e7-1319. e9. doi: 10.1016/ j.neurobiolaging.2012.09.004
14. Kohli, M. A., John-Williams, K., Rajbhandary, R., Naj, A., Whitehead, P., Hamilton, K., et al. (2013). Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiol. Aging 34, 1519. e5-1519. e12. doi: 10.1016/ j.neurobiolaging.2012.10.003
15. Konno, T., Shiga, A., Tsujino, A., Sugai, A., Kato, T., Kanai, K., et al. (2012). Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J. Neurol. Neurosurg. Psychiatr. 84, 398-401. doi: 10.1136/jnnp-2012-302272
16. Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., et al. (2013). C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 136, 385-391. doi: 10.1093/brain/aws357
17. Louis, E. D., Ottman, R., Ford, B., Pullman, S., Martinez, M., Fahn, S., et al. (1997). The washington heights-inwood genetic study of essential tremor: methodologic issues in essential-tremor research. Neuroepidemiology 16, 124-133. doi: 10.1159/000109681
18. Majounie, E., Abramzon, Y., Renton, A. E., Keller, M. F., Traynor, B. J., and Singleton, A. B. (2012a). Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol. Aging 33, 2527. e1-2527. e2. doi: 10.1016/ j.neurobiolaging.2012.05.007
19. Majounie, E., Abramzon, Y., Renton, A. E., Perry, R., Bassett, S. S., Pletnikova, O., et al. (2012b). Repeat expansion in C9ORF72 in Alzheimer's disease. N. Engl. J. Med. 366, 283-284. doi: 10.1056/NEJMc1113592
20. McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., and Stadlan, E. M. (1984). Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34, 939-944. doi: 10.1212/ WNL.34.7.939
21. Nakashima-Yasuda, H., Uryu, K., Robinson, J., Xie, S. X., Hurtig, H., Duda, J. E., et al. (2007). Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol. 114, 221-229. doi: 10.1007/s00401-007-0261-2
22. O'Dowd, S., Curtin, D., Waite, A. J., Roberts, K., Pender, N., Reid, V., et al. (2012). C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Mov. Disord. 27, 1072-1074. doi: 10.1002/mds.25022
23. Ogaki, K., Li, Y., Atsuta, N., Tomiyama, H., Funayama, M., Watanabe, H., et al. (2012). Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol. Aging 33, 2527. e11-2526. e6. doi: 10.1016/ j.neurobiolaging.2012.05.011
24. Piguet, O., Hornberger, M., Mioshi, E., and Hodges, J. R. (2011). Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management. Lancet Neurol. 10, 162-172. doi: 10.1016/S1474-4422(10)70299-4
25. Renton, A. E., Majounie, E., Waite, A., Simon-Sanchez, J., Rollinson, S., Gibbs, J. R., et al. (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALSFTD. Neuron 72, 257-268. doi: 10.1016/j.neuron.2011.09.010
26. Rollinson, S., Halliwell, N., Young, K., Callister, J. B., Toulson, G., Gibbons, L., et al. (2012). Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease. Neurobiol. Aging 33, 1846. e5-1846. e6. doi: 10.1016/ j.neurobiolaging.2012.01.109
27. Sha, S. J., and Boxer, A. (2012). Treatment implications of C9ORF72. Alzheimers Res. Ther. 4, 46. doi: 10.1186/alzrt149
28. Takada, L. T., Pimentel, M. L., Dejesus-Hernandez, M., Fong, J. C., Yokoyama, J. S., Karydas, A., et al. (2012). Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch. Neurol. 69, 1149-1153. doi: 10.1001/archneurol.2012.650
29. Tsai, C. P., Soong, B. W., Tu, P. H., Lin, K. P., Fuh, J. L., Tsai, P. C., et al. (2012). A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol. Aging 33, 2232. e11-2232. e18. doi: 10.1016/ j.neurobiolaging.2012.05.002
30. Van Der Zee, J., Gijselinck, I., Dillen, L., Van Langenhove, T., Theuns, J., Engelborghs, S., et al. (2013). A pan-european study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum. Mutat. 34, 363-373. doi: 10.1002/humu.22244
31. Xi, Z., Zinman, L., Grinberg, Y., Moreno, D., Sato, C., Bilbao, J. M., et al. (2012). Investigation of C9orf72 in 4 neurodegenerative disorders. Arch. Neurol. 69, 1583-1590. doi: 10.1001/archneurol.2012.2016
32. Zou, Z. Y., Li, X. G., Liu, M. S., and Cui, L. Y. (2012). Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiol. Aging. 34, 1710. e5-1710. e6. doi: 10.1016/ j.neurobiolaging.2012.03.014