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

[Mitochondrial encephalopathy affecting only the central nervous system].

P Davous1, P Khoubesserian, P Tric

  • 1Hôpital International de l'Université, Paris.

Revue Neurologique
|January 1, 1991
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 prospective study of depression in French patients with Parkinson's disease. The Depar study.

European journal of neurology·2013
Same author

[Facial diplegia and acute inflammatory demyelinating neuropathy secondary to varicella].

Revue neurologique·2008
Same author

[Fragile X premutation presenting as postural tremor and ataxia (FXTAS syndrome)].

Revue neurologique·2007
Same author

[Apolipoprotein E and bleomycin hydrolase. Polymorphisms: association with neurodegenerative diseases].

Annales de biologie clinique·2003
Same author

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance.

Journal of medical genetics·2002
Same author

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Nature genetics·2001

This case study identifies a mitochondrial encephalopathy, similar to MELAS syndrome, in a diabetic woman presenting with stroke-like episodes. Muscle biopsy confirmed mitochondrial abnormalities, suggesting a specific vascular pathology.

Area of Science:

  • Neurology
  • Mitochondrial Diseases
  • Genetics

Background:

  • Mitochondrial encephalopathies are rare genetic disorders affecting energy production.
  • MELAS syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is a common type.

Observation:

  • A 32-year-old diabetic woman experienced acute coma, seizures, aphasia, and apraxia.
  • Neurological deficits included hearing loss, retinal degeneration, basal ganglia calcification, and lactic acidosis.
  • Muscle biopsy revealed ragged-red fibers and mitochondrial abnormalities.

Findings:

  • The patient's presentation and muscle biopsy findings were consistent with mitochondrial encephalopathy, resembling MELAS syndrome.
  • Stroke-like episodes were hypothesized to stem from mitochondrial angiopathy in cerebral vessels.

Related Experiment Videos

Implications:

  • This case highlights the diagnostic value of muscle biopsy in suspected mitochondrial disorders.
  • Understanding mitochondrial angiopathy is crucial for managing stroke-like episodes in these conditions.
  • Further research into mitochondrial vascular pathology may reveal new therapeutic targets.