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GGGGCC repeat expansions in the  C9orf72  gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the overlapping of clinical phenotypes and pathological characteristics between these two diseases and Alzheimer's disease (AD), Parkinson's disease (PD), and essential tremor (ET), we speculated regarding whether  C9orf72  repeat expansions also play a major role in these three diseases. Using the repeat-primed polymerase chain reaction method, we screened for  C9orf72  in three groups of patients with PD ( n  = 911), AD ( n  = 279), and ET ( n  = 152) in the Chinese Han population. There were no pathogenic repeats (>30 repeats) detected in either the patients or controls ( n  = 314), which indicated that the pathogenic expansions of  C9orf72  might be rare in these three diseases. However, the analysis of the association between the number of repeats ( p  = 0.001), short/intermediate genotype (short: <7 repeats; intermediate: ≥7 repeats) (odds ratio 1.37 [1.05, 1.79]), intermediate/intermediate genotype (Odds ratio 2.03 [1.17, 3.54]), and PD risks indicated that intermediate repeat alleles could act as contributors to PD. To the best of our knowledge, this study is the first to reveal the correlation between  C9orf72  and Chinese PD, AD, or ET patients. Additionally, the results of this study suggest the novel idea that the intermediate repeat allele in  C9orf72  is most likely a risk factor for PD.

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