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In Reply We appreciate the comments by Schottlaender and colleagues concerning our article1 published in JAMA Neurology. We agree that the importance of our article was to highlight the variable phenotypes that are associated with C9orf72 expansions. To date, the reported C9orf72 expansion–associated phenotypes have been frontotemporal dementia, amyotrophic lateral sclerosis (ALS), frontotemporal dementia/ALS, Huntington disease–like disorders,2 psychiatric disorders, dementia of Lewy bodies,3 parkinsonism,4 and multiple system atrophy (MSA).1
Goldman JS, Kuo S. Multiple System Atrophy and Repeat Expansions in C9orf72—Reply. JAMA Neurol. 2014;71(9):1191-1192. doi:10.1001/jamaneurol.2014.1811