C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

JD Rohrer, AM Isaacs, S Mizielinska, S Mead… - The Lancet …, 2015 - thelancet.com
C9orf72 hexanucleotide repeat expansions are the most common cause of familial
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …

Machine learning in amyotrophic lateral sclerosis: achievements, pitfalls, and future directions

V Grollemund, PF Pradat, G Querin, F Delbot… - Frontiers in …, 2019 - frontiersin.org
Background: Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive
neurodegenerative condition with limited therapeutic options at present. Survival from …

[HTML][HTML] The olfactory bulb as the entry site for prion-like propagation in neurodegenerative diseases

NL Rey, DW Wesson, P Brundin - Neurobiology of disease, 2018 - Elsevier
Olfactory deficits are present in numerous neurodegenerative disorders and are
accompanied by pathology in related brain regions. In several of these disorders, olfactory …

Widespread grey matter pathology dominates the longitudinal cerebral MRI and clinical landscape of amyotrophic lateral sclerosis

RAL Menke, S Körner, N Filippini, G Douaud, S Knight… - Brain, 2014 - academic.oup.com
Diagnosis, stratification and monitoring of disease progression in amyotrophic lateral
sclerosis currently rely on clinical history and examination. The phenotypic heterogeneity of …

Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes

M Abidi, G de Marco, A Couillandre… - European Journal of …, 2020 - Wiley Online Library
Background and purpose Considerable functional reorganization takes place in
amyotrophic lateral sclerosis (ALS) in face of relentless structural degeneration. This study …

Hippocampal pathology in amyotrophic lateral sclerosis: selective vulnerability of subfields and their associated projections

F Christidi, E Karavasilis, M Rentzos, G Velonakis… - Neurobiology of …, 2019 - Elsevier
Although hippocampal involvement in amyotrophic lateral sclerosis (ALS) has been
consistently highlighted by postmortem studies, memory impairment remains under …

Multidimensional apathy in ALS: validation of the Dimensional Apathy Scale

R Radakovic, L Stephenson, S Colville… - Journal of Neurology …, 2016 - jnnp.bmj.com
Aim Apathy is a prominent symptom of amyotrophic lateral sclerosis (ALS), but measurement
is confounded by physical disability. Furthermore, it has been traditionally measured as a …

Clinical and radiological markers of extra-motor deficits in amyotrophic lateral sclerosis

F Christidi, E Karavasilis, M Rentzos, N Kelekis… - Frontiers in …, 2018 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is now universally recognized as a complex multisystem
disorder with considerable extra-motor involvement. The neuropsychological manifestations …

Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study

P Bede, T Omer, E Finegan, RH Chipika… - Brain imaging and …, 2018 - Springer
Frontotemporal dementia (FTD) phenotypes have distinctive and well-established cortical
signatures, but their subcortical grey matter profiles are poorly characterised. The …

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

G Querin, P Bede, MM El Mendili, M Li… - Annals of …, 2019 - Wiley Online Library
Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent …