publication . Article . 2014

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

simon mead;
  • Published: 11 Feb 2014
Abstract
The discovery of the C9ORF72 hexanucleotide repeat expansion in 2011 and the immediate realisation of a remarkably high prevalence in both familial and sporadic frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) triggered an explosion of interest in studies aiming to define the associated clinical and investigation phenotypes and attempts to develop technologies to measure more accurately the size of the repeat region. This article reviews progress in these areas over the subsequent 2 years, focussing on issues directly relevant to the practising physician. First, we summarise findings from studies regarding the global prevalence of...
Subjects
free text keywords: Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Clinical Neurology, C9orf72, Frontotemporal lobar degeneration, medicine.disease, medicine, Genetic counseling, Trinucleotide repeat expansion, Amyotrophic lateral sclerosis, Pathology, medicine.medical_specialty, Disease, business.industry, business, DNA Repeat Expansion, Dementia
Powered by OpenAIRE Open Research Graph
Any information missing or wrong?Report an Issue
publication . Article . 2014

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

simon mead;