Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
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...
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...
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...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A case of acute myelopathy in ATTR-Val30Met amyloidosis with leptomeningeal involvement: pathophysiological insights and upcoming therapeutic challenges.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2025
Same author

Kidney Outcomes in Patients With Hereditary Transthyretin Amyloid Nephropathy Treated With Transthyretin Stabilizers And Gene-Silencer Therapies.

Kidney international reports·2025
Same author

Complete remission after patisiran treatment in a patient with nephrotic syndrome secondary to hereditary transthyretin amyloidosis (ATTR).

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis·2025
Same author

The history of the European Neurological Society (1986-2014)-10 years later.

European journal of neurology·2024
Same author

Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy.

ESC heart failure·2024
Same author

Rate and characteristics of inflammatory neuropathies associated with brentuximab vedotin therapy.

European journal of neurology·2024
Same journal

Resolution of expression of concern-Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study.

The Lancet. Neurology·2026
Same journal

UCL Queen Square Institute of Neurology: 75 years of innovation.

The Lancet. Neurology·2026
Same journal

Correction to Lancet Neurol 2026; 25: 631.

The Lancet. Neurology·2026
Same journal

Epstein-Barr virus and multiple sclerosis: from associations to mechanisms to potential therapies.

The Lancet. Neurology·2026
Same journal

Correction to Lancet Neurol 2025; 24: 740-52.

The Lancet. Neurology·2026
Same journal

Correction to Lancet Neurol 2026; 25: 357-67.

The Lancet. Neurology·2026
See all related articles

Related Experiment Video

Updated: May 27, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Familial amyloid polyneuropathy.

Violaine Planté-Bordeneuve1, Gerard Said

  • 1Department of Neurology, Centre Hospitalier Universitaire Henri-Mondor, Créteil, France.

The Lancet. Neurology
|November 19, 2011
PubMed
Summary
This summary is machine-generated.

Familial amyloid polyneuropathies (FAPs) are genetic disorders caused by amyloid deposits. Transthyretin (TTR) mutations are the most common cause, leading to progressive neuropathy and autonomic dysfunction.

More Related Videos

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Related Experiment Videos

Last Updated: May 27, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Area of Science:

  • Genetics
  • Neurology
  • Internal Medicine

Background:

  • Familial amyloid polyneuropathies (FAPs) are inherited, life-threatening multisystem disorders.
  • Amyloid fibril deposition, primarily from mutated transthyretin (TTR), causes nerve damage.
  • Over 100 amyloidogenic point mutations exist, with TTR Val30Met being the most prevalent.

Purpose of the Study:

  • To review the genetic causes, clinical variability, and current/emerging treatments for FAPs.
  • To highlight the impact of TTR mutations on neuropathy and autonomic function.
  • To discuss the role of liver transplantation and pharmacologic interventions.

Main Methods:

  • Literature review of FAP genetics, pathophysiology, and clinical management.
  • Analysis of mutation prevalence, penetrance, and geographical variations.
  • Evaluation of treatment outcomes for liver transplantation and tafamidis meglumine.

Main Results:

  • TTR Val30Met is the most common FAP mutation, but disease onset and severity vary globally.
  • TTR FAP typically presents as a length-dependent polyneuropathy with autonomic dysfunction, leading to cachexia and reduced lifespan.
  • Liver transplantation can improve neuropathy but not cardiac/ocular symptoms; tafamidis shows promise in preventing TTR misfolding.

Conclusions:

  • FAP management requires a multidisciplinary approach, considering genetic factors and disease heterogeneity.
  • Emerging therapies like tafamidis and potential gene therapies offer future hope for FAP patients.
  • Genetic counseling is crucial for FAP prevention and family planning.