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 …

An update on genetic frontotemporal dementia

CV Greaves, JD Rohrer - Journal of neurology, 2019‏ - Springer
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders,
with around 30% of patients having a strong family history. The majority of that heritability is …

Frontotemporal dementia, where do we stand? A narrative review

A Antonioni, EM Raho, P Lopriore, AP Pace… - International journal of …, 2023‏ - mdpi.com
Frontotemporal dementia (FTD) is a neurodegenerative disease of growing interest, since it
accounts for up to 10% of middle-age-onset dementias and entails a social, economic, and …

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 …

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

JD Rohrer, IOC Woollacott, KM Dick, E Brotherhood… - Neurology, 2016‏ - neurology.org
Objective: To investigate serum neurofilament light chain (NfL) concentrations in
frontotemporal dementia (FTD) and to see whether they are associated with the severity of …

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013‏ - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

C9orf72 BAC mouse model with motor deficits and neurodegenerative features of ALS/FTD

Y Liu, A Pattamatta, T Zu, T Reid, O Bardhi… - Neuron, 2016‏ - cell.com
To define how the C9orf72 GGGGCC expansion mutation causes ALS/FTD and to facilitate
therapy development, a mouse model that recapitulates the molecular and phenotypic …

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

K Mori, SM Weng, T Arzberger, S May, K Rentzsch… - Science, 2013‏ - science.org
Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is
the most common cause of familial frontotemporal lobar degeneration and amyotrophic …

[HTML][HTML] Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study …

JD Rohrer, JM Nicholas, DM Cash… - The Lancet …, 2015‏ - thelancet.com
Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In
about a third of patients, the disease is caused by autosomal dominant genetic mutations …

Thalamic pathology and memory loss in early Alzheimer's disease: moving the focus from the medial temporal lobe to Papez circuit

JP Aggleton, A Pralus, AJD Nelson, M Hornberger - Brain, 2016‏ - academic.oup.com
It is widely assumed that incipient protein pathology in the medial temporal lobe instigates
the loss of episodic memory in Alzheimer's disease, one of the earliest cognitive deficits in …