C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

Nicola Ticozzi, Cinzia Tiloca, Daniela Calini, Stella Gagliardi, Alessandra Altieri, Claudia Colombrita, Cristina Cereda, Antonia Ratti, Gianni Pezzoli, Barbara Borroni, Stefano Goldwurm, Alessandro Padovani, Vincenzo Silani

Research output: Contribution to journalArticlepeer-review


Expansion of a GGGGCC repeat (RE) in the C9orf72 gene has been recently reported as the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the growing evidence of genetic and clinicopathologic overlap among ALS, FTD, and other neurodegenerative diseases, we investigated the occurrence of RE in a subset of 9 patients with ALS-plus syndromes, including Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy. We identified RE in 2 ALS-plus individuals (22.2%) displaying PSP and CBS features. On the basis of this finding, we extended our analysis to a cohort composed of 190 PD, 103 CBS, 107 PSP, and 177 Alzheimer's disease cases. We did not identify any RE in these patients, indicating that C9orf72 is in all probability not involved in the pathogenesis of these disorders. However, the high frequency of C9orf72 RE in patients with ALS-plus syndromes suggests that, similar to ALS-FTD patients, individuals with combined motor neuron and extrapyramidal features should be screened for RE, independent of their family history.

Original languageEnglish
JournalNeurobiology of Aging
Issue number4
Publication statusPublished - Apr 2014


  • Amyotrophic lateral sclerosis
  • C9orf72
  • Corticobasal syndrome
  • Frontotemporal lobar degeneration
  • Neurogenetics
  • Progressive supranuclear palsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology


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