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Comment & Response |

Multiple System Atrophy and Repeat Expansions in C9orf72

Lucia V. Schottlaender, MD1; Janice L. Holton, MD, PhD1; Henry Houlden, MD, PhD1
[+] Author Affiliations
1Department of Molecular Neuroscience, and the Queen Square Brain Bank, University College London Institute of Neurology, London, England
JAMA Neurol. 2014;71(9):1190-1191. doi:10.1001/jamaneurol.2014.1808.
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To the Editor We read with great interest the article by Goldman et al1 that reported a case with possible multiple system atrophy (MSA) and a dominant family history of amyotrophic lateral sclerosis with segregating repeat expansions in C9orf72. This report emphasized the importance of C9orf72 testing given the clinical overlap between neurodegenerative movement disorders2 in particular in patients with a family history of neurologic disease.3 An intronic hexanucleotide expansion in C9orf72 has been recently discovered as a common cause of the amyotrophic lateral sclerosis/frontotemporal lobar degeneration spectrum of disease.4


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September 1, 2014
Jill S. Goldman, MS, MPhil; Sheng-Han Kuo, MD
1Taub Institute for Research of Alzheimer’s Disease and the Aging Brain, Columbia University, New York, New York
2Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
JAMA Neurol. 2014;71(9):1191-1192. doi:10.1001/jamaneurol.2014.1811.
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