Method for diagnosing a neurodegenerative disease

Stuart Pickering-Brown (Inventor), Bryan Traynor (Inventor), Andrew Singleton (Inventor), Huw Morris (Inventor), Peter Heutink (Inventor), John Hardy (Inventor), Pentti Tiernari (Inventor)

Research output: Patent


The present invention relates to methods of assessing whether a subject has or is likely to develop a neurodegenerative disease comprising determining whether the subject has a mutation in the C9orf72 gene wherein said mutation prevents or disrupts C9orf72 expression relative to expression in a reference from subjects without the mutation.

Original languageEnglish
Patent numberWO2013030588
IPCC12Q 1/ 68 A I
Priority date31/08/11
Publication statusPublished - 7 Mar 2013


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