期刊
NEUROBIOLOGY OF AGING
卷 33, 期 8, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2012.02.011
关键词
Amyotrophic lateral sclerosis; C9ORF72; Frontotemporal dementia; Survival
资金
- Intramural Research Programs of the NIH, National Institute on Aging [Z01-AG000949-02]
- NINDS
- Packard Center for ALS Research at Hopkins
- ALS Association
- Microsoft Research
- Federazione Italiana Giuoco Calcio
- European Community's Health Seventh Framework Programme [259867]
- ARISLA
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia. (C) 2012 Elsevier Inc. All rights reserved.
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