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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,...
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Related Experiment Video

Updated: Jul 13, 2026

Christopher Hughes: An in vitro model for the Study of Angiogenesis (Interview)
10:29

Christopher Hughes: An in vitro model for the Study of Angiogenesis (Interview)

Published on: April 28, 2007

Hughes syndrome.

Sobha Sivaprasad1, Zdenek Gregor

  • 1Moorfileds Eye Hospital, London, UK.

Clinical & Experimental Ophthalmology
|July 27, 2007
PubMed
Summary

Antiphospholipid syndrome (APS) is an autoimmune disorder causing blood clots. This case highlights successive ocular vascular events in a patient with APS, emphasizing its varied presentation.

Area of Science:

  • Autoimmune diseases
  • Vascular disorders
  • Rheumatology

Background:

  • Antiphospholipid syndrome (APS), or Hughes syndrome, is a serious autoimmune condition.
  • APS involves antibodies attacking phospholipids and related proteins, leading to clotting risks.
  • It can mimic other neurological conditions like multiple sclerosis.

Observation:

  • The case study focuses on a patient experiencing recurrent ocular vascular events.
  • These events were directly linked to the presence of antiphospholipid syndrome.
  • The patient's presentation underscores the potential for APS to manifest in the eyes.

Findings:

  • Successive ocular vascular events were observed in the patient.
  • These events were diagnosed as being associated with antiphospholipid syndrome.

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  • The findings suggest a strong link between APS and specific types of eye complications.
  • Implications:

    • This case highlights the importance of considering APS in patients with unexplained ocular vascular events.
    • Early diagnosis and management of APS can prevent severe complications.
    • Further research into APS's ocular manifestations is warranted.