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 Experiment Videos

Tau mutations in frontotemporal dementia.

K C Wilhelmsen1, L N Clark, B L Miller

  • 1Department of Neurology, University of California, San Francisco, Calif. 94110, USA. kirk@wildtype.ucsf.edu

Dementia and Geriatric Cognitive Disorders
|August 7, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

A phase I study to evaluate the safety, pharmacokinetics, and pharmacodynamics of PF-06939999 (PRMT5 inhibitor) in patients with selected advanced or metastatic tumors with high incidence of splicing factor gene mutations.

ESMO open·2024
Same author

Functional neurogenomics in autism spectrum disorders: A decade of progress.

Current opinion in neurobiology·2024
Same author

Sexually dimorphic differences in angiogenesis markers predict brain aging trajectories.

bioRxiv : the preprint server for biology·2023
Same author

Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2020
Same author

Dopamine receptor D<sub>4</sub> (DRD<sub>4</sub>) polymorphisms with reduced functional potency intensify atrophy in syndrome-specific sites of frontotemporal dementia.

NeuroImage. Clinical·2019
Same author

Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification ("Fahr" Disease').

Journal of molecular neuroscience : MN·2018

Genetic analysis reveals that frontotemporal dementia (FTD) and related disorders share common causes. Tau gene mutations are linked to many familial cases, particularly those involving chromosome 17q21-22.

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Neurology

Background:

  • Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders with overlapping clinical and pathological features.
  • Previous studies suggested etiological links between various FTD-related conditions.
  • The role of genetic factors, particularly tau gene mutations, in familial FTD has been increasingly recognized.

Purpose of the Study:

  • To investigate the etiological relationship between clinically and pathologically related frontotemporal dementia disorders.
  • To identify specific genetic mutations responsible for familial forms of these disorders.
  • To understand the genetic basis of chromosome 17q21-22-linked neurodegenerative diseases.

Main Methods:

  • Genetic analysis, including linkage analysis, was employed to establish familial relationships.

Related Experiment Videos

  • Identification of mutations within the tau gene.
  • Analysis focused on mutations affecting the microtubule binding domain of the tau gene.

    • Main Results:

    • Genetic analysis confirmed an etiological relationship among a series of disorders clinically and pathologically linked to FTD.
    • Mutations in the tau gene were identified in numerous families with chromosome 17q21-22-linked disease.
    • These specific tau gene mutations were found to affect the microtubule binding domain, impacting gene expression or structure.

    Conclusions:

    • A significant genetic link exists between various frontotemporal dementia and related disorders, primarily through tau gene mutations.
    • Mutations in the tau gene are a key cause of familial FTD, especially in chromosome 17q21-22-linked cases.
    • However, these identified tau mutations account for only a minority of sporadic or small-family FTD cases, suggesting other genetic factors are involved.