Cervical spinal cord (SC) magnetic resonance imaging readily captures presymptomatic pathological changes and disease propagation in C9orf72-associated conditions, which has implications for prognostication, genetic counseling, and future clinical trials.
Why this matters
Up to 40% of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases are caused by autosomal dominant hexanucleotide expansions in the noncoding region of the C9orf72 gene.
Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated cerebral white (WM) and gray matter (GM) degeneration before the age of 40 years.
The relationship between repeat numbers and age of symptom onset is not firmly established and no validated prognostic indicators currently exist to predict the clinical manifestation of repeat expansions at the asymptomatic stages of ALS/FTD.
Vous souhaitez en lire plus ?
Connectez-vous à votre compte ou inscrivez-vous à Neurodiem pour consulter la suite.
Vous avez déjà un compte ? S'identifier
International Medical Press is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.
No responsibility is assumed by International Medical Press for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, International Medical Press recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of International Medical Press or the sponsor. International Medical Press assumes no liability for any material contained herein.