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 …

Molecular pathology of neurodegenerative diseases: principles and practice

GG Kovacs - Journal of clinical pathology, 2019 - jcp.bmj.com
Neurodegenerative diseases are characterised by selective dysfunction and progressive
loss of synapses and neurons associated with pathologically altered proteins that deposit …

neuropathology of non‐tau frontotemporal lobar degeneration

M Neumann, IRA Mackenzie - Neuropathology and applied …, 2019 - Wiley Online Library
Frontotemporal dementia (FTD) is a heterogeneous clinical syndrome associated with
frontotemporal lobar degeneration (FTLD) as a relatively consistent neuropathological …

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

C Dobson-Stone, M Hallupp, H Shahheydari… - Brain, 2020 - academic.oup.com
Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically
overlapping disorders with shared genetic causes. We previously identified a disease locus …

Genotype–phenotype links in frontotemporal lobar degeneration

S Van Mossevelde, S Engelborghs… - Nature Reviews …, 2018 - nature.com
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …

Frontotemporal lobar degeneration TDP-43-immunoreactive pathological subtypes: clinical and mechanistic significance

M Neumann, EB Lee, IR Mackenzie - … Dementias: Emerging Milestones of …, 2021 - Springer
Frontotemporal lobar degeneration with TPD-43-immunoreactive pathology (FTLD-TDP) is
subclassified based on the type and cortical laminar distribution of neuronal inclusions. The …

Advances in the treatment and management of frontotemporal dementia

A Benussi, B Borroni - Expert Review of Neurotherapeutics, 2023 - Taylor & Francis
Introduction Frontotemporal dementia (FTD) is a complex neurodegenerative disorder,
characterized by a wide range of pathological conditions associated with the buildup of …

Subcortical TDP-43 pathology patterns validate cortical FTLD-TDP subtypes and demonstrate unique aspects of C9orf72 mutation cases

IR Mackenzie, M Neumann - Acta neuropathologica, 2020 - Springer
Frontotemporal lobar degeneration with TDP-43 immunoreactive (TDP-ir) inclusions (FTLD-
TDP) is sub-classified based on the pattern of neocortical pathology, with each subtype …

Right temporal variant frontotemporal dementia is pathologically heterogeneous: a case-series and a systematic review

H Ulugut, AA Dijkstra, M Scarioni… - Acta neuropathologica …, 2021 - Springer
Although the right temporal variant frontotemporal dementia (rtvFTD) is characterised by
distinct clinical and radiological features, its underlying histopathology remains elusive …

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

C Koriath, J Kenny, G Adamson, R Druyeh… - Molecular …, 2020 - nature.com
Next-generation genetic sequencing (NGS) technologies facilitate the screening of multiple
genes linked to neurodegenerative dementia, but there are few reports about their use in …