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

New mutation to Huntington's disease.

G Wolff1, G Deuschl, T F Wienker

  • 1Institut für Humangenetik und Anthropologie, University of Freiburg i Br, Federal Republic of Germany.

Journal of Medical Genetics
|January 1, 1989
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

Adaptive Deep Brain Stimulation in Parkinson's Disease: A Delphi Consensus Study.

medRxiv : the preprint server for health sciences·2024
Same author

The economic benefit of timely, adequate, and adherence to Parkinson's disease treatment: the Value of Treatment Project 2.

European journal of neurology·2020
Same author

Insufficiency of trunk extension and impaired control of muscle force in Parkinson's disease with camptocormia.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology·2020
Same author

Discrimination of physiological tremor from pathological tremor using accelerometer and surface EMG signals.

Technology and health care : official journal of the European Society for Engineering and Medicine·2020
Same author

Differences in neurology residency training programmes across Europe - a survey among the Residents and Research Fellow Section of the European Academy of Neurology national representatives.

European journal of neurology·2020
Same author

Recruitment gain of spinal motor neuron pools in cat and human.

Experimental brain research·2019

A rare case of Huntington's disease (HD) in a large family suggests a new mutation. Genetic analysis confirmed the patient is a full sibling, with over 99% probability of a de novo HD mutation.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a progressive neurodegenerative disorder.
  • Typically, HD is inherited in an autosomal dominant pattern.
  • Identifying the origin of sporadic cases is crucial for genetic counseling.

Observation:

  • A patient presented with typical Huntington's disease (HD) symptoms at age 36.
  • The patient's extensive family history was negative for HD, with unaffected parents and healthy siblings.
  • Extensive genetic marker analysis, including DNA typing for RFLPs linked to the HD locus, was performed.

Findings:

  • Genetic analyses ruled out non-paternity and supported the patient being a full sibling.
  • Unaffected siblings shared haplotypes with the patient, indicating the mutation likely occurred in the patient.

Related Experiment Videos

  • The posterior probability of a new mutation causing HD in this patient exceeded 99%.

    • Implications:

    • This case provides strong evidence for spontaneous, new mutations causing Huntington's disease (HD).
    • Understanding new mutation rates is vital for accurate genetic risk assessment in families with apparent sporadic HD.
    • This finding has implications for the genetic counseling of families with isolated HD cases.