C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan

Archives of Neurology

Volumn 69, Issue 9, 2012, Pages 1154-1158

  Ishiura, Hiroyuki ^a   Takahashi, Yuji ^a   Mitsui, Jun ^a   Yoshida, Sohei ^b   Kihira, Tameko ^b   Kokubo, Yasumasa ^c   Kuzuhara, Shigeki ^d   Ranum, Laura P W ^f   Tamaoki, Tomoko ^e   Ichikawa, Yaeko ^a   Date, Hidetoshi ^a   Goto, Jun ^a   Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b KANSAI UNIVERSITY OF HEALTH SCIENCES   (Japan)

^c MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d SUZUKA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^e HYOGO COLLEGE OF MEDICINE   (Japan)

^f UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 9; CHROMOSOME 9 OPEN READING FRAME 72 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DEMENTIA; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; JAPAN; MALE; NEUROIMAGING; NUCLEOTIDE REPEAT; ONSET AGE; OPEN READING FRAME; PARKINSONISM; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SOUTHERN BLOTTING;

AGE OF ONSET; AGED; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOMES, HUMAN, PAIR 9; DNA REPEAT EXPANSION; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; JAPAN; MIDDLE AGED; PREVALENCE; PROTEINS;

EID: 84866058216     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2012.1219     Document Type: Article

References (15)

1. Shiraki H, Yase Y. Amyotrophic lateral sclerosis in Japan. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology, Vol 22: System Disorders and Atrophies Part II. Amsterdam, the Netherlands: North-Holland Publishing; 1975:353-419.
2. Koerner DR. Amyotrophic lateral sclerosis on Guam. Ann Intern Med. 1952;37(6):1204-1220.
3. Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis, I: preliminary report on geographic distribution, with special reference to the Mariana Islands, including clinical and pathologic observations. Neurology. 1954;4(5):355-378.
4. Gajdusek DC. Motor-neuron disease in natives of New Guinea. N Engl J Med. 1963;268:474-476.
5. Gajdusek DC, Salazar AM. Amyotrophic lateral sclerosis and parkinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea. Neurology. 1982;32(2):107-126. (Pubitemid 12223992)
6. Yoshida S, Uebayashi Y, Kihira T, et al. Epidemiology of motor neuron disease in the Kii Peninsula of Japan, 1989-1993: active or disappearing focus? J Neurol Sci. 1998;155(2):146-155. (Pubitemid 28139013)
7. Kihira T, Yoshida S, Hironishi M, Miwa H, Okamato K, Kondo T. Changes in the incidence of amyotrophic lateral sclerosis in Wakayama, Japan. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005;6(3):155-163. (Pubitemid 41419202)
8. Kuzuhara S. Muro disease: amyotrophic lateral sclerosis/parkinsonism- dementia complex in Kii peninsula of Japan [in Japanese]. Brain Nerve. 2011;63(2):119-129.
9. Kuzuhara S, Kokubo Y, Sasaki R, et al. Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: clinical and neuropathological study and tau analysis. Ann Neurol. 2001;49(4):501-511. (Pubitemid 32281334)
10. Tomiyama H, Kokubo Y, Sasaki R, et al. Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. Mov Disord. 2008;23(16):2344-2348.
11. Hara K, Kokubo Y, Ishiura H, et al. TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(1):310-313.
12. 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(2):245-256.
13. Renton AE, Majounie E, Waite A, et al ITALSGEN Consortium. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72(2):257-268.
14. Majounie E, Renton AE, Mok K, et al; The Chromosome 9-ALS/FTD Consortium;The French Research Network on FTLD/FTLD/ALS; The ITALSGEN Consortium. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11(4):323-330.
15. Miyazawa H, Kato M, Awata T, et al. Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet. 2007;80(6):1090-1102. (Pubitemid 47579345)