Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

• Published in: Lancet neurology Vol. 11; no. 3; pp. 232 - 240
• Main Authors: Byrne, Susan, Dr, Elamin, Marwa, MD, Bede, Peter, MD, Shatunov, Aleksey, PhD, Walsh, Cathal, PhD, Corr, Bernie, MSc, Heverin, Mark, MSc, Jordan, Norah, MSc, Kenna, Kevin, BSc, Lynch, Catherine, MSc, McLaughlin, Russell L, BSc, Iyer, Parameswaran Mahadeva, MD, O'Brien, Caoimhe, MSc, Phukan, Julie, PhD, Wynne, Brona, BSc, Bokde, Arun L, PhD, Bradley, Daniel G, Prof, Pender, Niall, PhD, Al-Chalabi, Ammar, Prof, Hardiman, Orla, Prof
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.03.2012; Elsevier Limited; Lancet Pub. Group
• Subjects: Aged; Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Amyotrophic Lateral Sclerosis - pathology; Amyotrophic Lateral Sclerosis - psychology; Brain - pathology; C9orf72 Protein; Chromosomes, Human, Pair 9; Clinical trials; Cognition - physiology; Cognitive ability; Cohort Studies; Cortex; Data processing; Dementia; DNA Repeat Expansion; Family medical history; Female; Frontotemporal dementia; Gene banks; Genetic testing; Genotype & phenotype; Heredity; Humans; Image processing; Longitudinal Studies; Magnetic resonance imaging; Male; Medical imaging; Middle Aged; Motor neuron disease; Motor neurons; N.M.R; Neurodegeneration; Neurodegenerative diseases; Neuroimaging; Neurology; Neuropsychological Tests; Polymerase chain reaction; Population; Proteins - genetics; Survival; United States > US; Ireland

Summary Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial...