Related Experiment Video

Updated: Jun 1, 2026

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43

Ian R A Mackenzie1, Manuela Neumann, Nigel J Cairns

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada. ian.mackenzie@vch.ca

Journal of Molecular Neuroscience : MN
|May 24, 2011
PubMed

Insights

This review details rare frontotemporal lobar degeneration (FTLD) subtypes lacking tau or TDP-43. It highlights new discoveries, including FTLD-FUS and CHMP2B mutations, advancing understanding of these complex neurodegenerative diseases.

Area of Science:

  • Neuroscience
  • Neuropathology

Background:

  • Frontotemporal lobar degeneration (FTLD) is typically classified by tau or TDP-43 protein aggregates.
  • Approximately 10% of FTLD cases have uncertain molecular origins.

Purpose of the Study:

  • To review genetic, clinical, and pathological features of tau/TDP-43 negative FTLD subtypes.
  • To present recent advances in understanding the molecular basis of these rare FTLD disorders.

Main Methods:

  • Literature review of genetic, clinical, and pathological studies.
  • Focus on recent discoveries in tau/TDP-43 negative FTLD.

Main Results:

  • Identification of FTLD-FUS subgroup characterized by fused in sarcoma (FUS) protein pathology.
  • Clarification of functional consequences of pathogenic CHMP2B mutations.

Conclusions:

  • Advances in understanding rare FTLD subtypes are expanding classification.
  • New molecular subgroups like FTLD-FUS are being defined, improving diagnostic and research avenues.

More Related Videos

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

Use of Capillary Electrophoresis Immunoassay to Search for Potential Biomarkers of Amyotrophic Lateral Sclerosis in Human Platelets11:03

Use of Capillary Electrophoresis Immunoassay to Search for Potential Biomarkers of Amyotrophic Lateral Sclerosis in Human Platelets

Published on: February 10, 2020

Related Concept Videos

Dementia l: Introduction01:22

Dementia l: Introduction

Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...