Hallmarks of neurodegenerative diseases

DM Wilson, MR Cookson, L Van Den Bosch… - Cell, 2023‏ - cell.com
Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …

Frontotemporal lobar degeneration

M Grossman, WW Seeley, AL Boxer, AE Hillis… - Nature Reviews …, 2023‏ - nature.com
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …

ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020‏ - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018‏ - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

S Ducharme, A Dols, R Laforce, E Devenney, F Kumfor… - Brain, 2020‏ - academic.oup.com
The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-
onset dementia. The diagnosis of bvFTD remains challenging because of the limited …

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

J Li, MK Jaiswal, JF Chien, A Kozlenkov, J Jung… - Nature …, 2023‏ - nature.com
A repeat expansion in the C9orf72 (C9) gene is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

AL Young, RV Marinescu, NP Oxtoby… - Nature …, 2018‏ - nature.com
The heterogeneity of neurodegenerative diseases is a key confound to disease
understanding and treatment development, as study cohorts typically include multiple …

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

PM Sullivan, X Zhou, AM Robins, DH Paushter… - Acta neuropathologica …, 2016‏ - Springer
Hexanucleotide repeat expansion in the C9orf72 gene is a leading cause of frontotemporal
lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS). Reduced expression of …

Frontotemporal dementia: latest evidence and clinical implications

JJ Young, M Lavakumar, D Tampi… - Therapeutic …, 2018‏ - journals.sagepub.com
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive
syndromes that present with impairment of executive functioning, changes in behavior, and …

Human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice

OM Peters, GT Cabrera, H Tran, TF Gendron… - Neuron, 2015‏ - cell.com
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common
mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal …