Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Cooper‐Knock, Johnathan; Hewitt, Christopher; Robin Highley, J.; Brockington, Alice; Milano, Antonio; Man, Somai; Martindale, Joanne; Hartley, Judith; Walsh, Theresa; Gelsthorpe, Catherine; Baxter, Lynne; Forster, Gillian; D. Fox, Melanie; J. Bury, Joanna; Y. Mok, Kin; McDermott, Christopher; J. Traynor, Bryan; Kirby, Janine; B. Wharton, Stephen; G. Ince, Paul; Hardy, John; J. Shaw, Pamela

doi:10.1093/brain/awr365

Public

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

Published in Brain • Feb 24, 2012

Authors:

Johnathan Cooper‐Knock

Christopher Hewitt

J. Robin Highley

Abstract

Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral ...

Subject

Amyotrophic lateral sclerosis

C9orf72

Frontotemporal dementia

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