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Related Experiment Video

Updated: Sep 18, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Decoding Huntington's disease: a global survey on symptoms and genetic testing practices.

C A M Koriath1,2, C Kurz3, S Mead4

  • 1LMU Department of Psychiatry and Psychotherapy, University Hospital Munich, Munich, Germany. carolin.koriath@med.uni-muenchen.de.

European Archives of Psychiatry and Clinical Neuroscience
|June 25, 2025
PubMed
Summary

Huntington's disease (HD) diagnosis relies on recognizing chorea and subtle cognitive/psychiatric signs. Experts emphasize clinical vigilance for early detection and genetic testing in this neurodegenerative disorder.

Keywords:
Genetic testingHDHD phenocopyHD-likeHuntington’s diseaseNeurodegenerative disease

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Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Neurology

Background:

  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It is caused by a CAG trinucleotide repeat expansion in the HTT gene.
  • HD presents with motor, psychiatric, and cognitive symptoms, often before motor onset.

Purpose of the Study:

  • To identify clinical symptoms considered pathognomic of Huntington's disease (HD).
  • To determine criteria for genetic testing in suspected HD cases.
  • To understand expert neurologist and neuro-geneticist perspectives on HD diagnosis.

Main Methods:

  • An online survey was distributed to 130 neurologists and neuro-geneticists.
  • 52 specialists from the European Huntington's Disease Network (EHDN) responded.
  • Responses were analyzed using Microsoft Excel and SPSS 26.

Main Results:

  • Chorea, cognitive slowing, irritability, and gait abnormalities were universally identified as indicative of HD.
  • Neuropathy, limb weakness, and tremor were considered inconsistent with HD.
  • 19% of experts would test with ancillary symptoms if a primary HD symptom was present; chorea alone sufficed without family history.

Conclusions:

  • HD diagnosis is complex, requiring attention to subtle psychiatric and cognitive symptoms.
  • Comprehensive patient counseling and clinical vigilance are crucial.
  • Advances in genetic testing and therapeutics offer hope for HD treatment.