A Man with Difficulty Chewing Gum and an Ominous Family History

  • Richard W. Orrell
  • Kin Y. Mok


A large expansion of the hexanucleotide repeat in the C9ORF72 gene is the most frequent identified genetic cause of ALS. It also causes other neurodegenerative diseases, especially frontotemporal dementia, and there may be clinical overlap in an individual and within families. Inheritance is autosomal dominant, although due to variable penetrance affected individuals may appear sporadic.


Amyotrophic lateral sclerosis Frontotemporal dementia. C9ORF72 Genetics 


  1. Majounie E, Renton AE, Mok K, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012;11:323–30.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  1. 1.MRC Centre for Neuromuscular DiseasesNational Hospital for Neurology and NeurosurgeryLondonUK
  2. 2.Department of Molecular NeuroscienceUCL Institute of NeurologyLondonUK

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