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

Mucolipidosis IV.

F Goutières, M L Arsenio-Nunes, J Aicardi

    Neuropadiatrie
    |November 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Mucolipidosis IV is a rare genetic disorder. Diagnosis involves neurological signs and biopsies, with evidence supporting autosomal recessive inheritance, not exclusive to Jewish populations.

    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

    Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).

    Neurology·2007
    Same author

    [Aicardi-Goutieres syndrome: an oft unrecognised familial early-onset encephalopathy].

    Revue neurologique·2005
    Same author

    [The effect of refractory epileptic seizures on cognitive processes].

    Revista de neurologia·2003
    Same author

    Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy.

    Neurology·2003
    Same author

    Dreamy state: a case report from the selected writings of John Hughlings Jackson. Brain 1874.

    Epileptic disorders : international epilepsy journal with videotape·2001
    Same author

    Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.

    Annals of neurology·2001

    Area of Science:

    • Genetics
    • Neurology
    • Ophthalmology

    Background:

    • Mucolipidosis IV (ML4) is a rare lysosomal storage disorder.
    • Characterized by systemic accumulation of lipids and carbohydrates.
    • Often presents with neurological and ocular abnormalities.

    Observation:

    • This study reviews seven previously reported cases and presents five new cases of ML4.
    • Focuses on the neurological manifestations and diagnostic utility of skin and conjunctival biopsies.
    • Investigates the genetic inheritance pattern and ethnic distribution of the disease.

    Findings:

    • Neurological signs are critical indicators for ML4 diagnosis.
    • Skin and conjunctival biopsies are valuable diagnostic tools.
    • Evidence supports an autosomal recessive inheritance pattern for ML4.

    Related Experiment Videos

  • The disorder is not exclusively observed in individuals of Jewish descent.
  • Absence of oligosacchariduria was noted in two of the presented cases.

    • Implications:

    • Highlights the importance of early diagnosis through clinical and histological findings.
    • Broadens the understanding of ML4's genetic basis and inheritance.
    • Challenges previous assumptions about the ethnic exclusivity of ML4.
    • Suggests further research into the biochemical pathways and potential therapeutic targets for ML4.