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Related Concept Videos

Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
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Hepatic Encephalopathy

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Huntington Disease l: Introduction01:21

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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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A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
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Related Experiment Video

Updated: Jun 24, 2026

3D-Neuronavigation In Vivo Through a Patient's Brain During a Spontaneous Migraine Headache
10:39

3D-Neuronavigation In Vivo Through a Patient's Brain During a Spontaneous Migraine Headache

Published on: June 2, 2014

[Mitochondrial disorder underlying headache symptoms].

Hannele Koillinen1, Satu Jääskeläinen, Kari Koski

  • 1TYKS:n lastenklinikka, perinnöllisyyspoliklinikka, PL 52, 20521 Turku.

Duodecim; Laaketieteellinen Aikakauskirja
|April 4, 2009
PubMed
Summary

Myoclonic epilepsy with ragged red fibers (MERRF) is a rare mitochondrial disease. This case report highlights severe headache and nausea as key symptoms in a young boy with MERRF.

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Biology

Background:

  • Myoclonic epilepsy with ragged red fibers (MERRF) is a rare mitochondrial disorder impacting multiple organs.
  • Conventional diagnosis relies on clinical presentation (myoclonic epilepsy) and muscle biopsy findings (ragged red fibers).
  • Genetic mutation analysis confirms the diagnosis of MERRF.

Observation:

  • This case report details a young boy experiencing severe symptoms of MERRF.
  • The most pronounced symptoms included a strain-associated headache episode and bouts of nausea.
  • Deficiency symptoms were also noted in conjunction with these severe episodes.

Findings:

  • The observed symptoms in this young patient underscore the variability of MERRF presentation.
  • Headache and nausea can manifest as severe, debilitating symptoms in pediatric MERRF cases.

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  • The findings suggest a potential link between specific mutations and symptom severity or type.
  • Implications:

    • This case broadens the understanding of MERRF's clinical spectrum, particularly in pediatric populations.
    • Highlights the need for considering gastrointestinal and neurological symptoms in MERRF diagnosis.
    • Emphasizes the importance of genetic confirmation and individualized patient management for mitochondrial disorders.