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

Pathologic findings in adrenoleukodystrophy heterozygotes.

J M Powers, H W Moser, A B Moser

    Archives of Pathology & Laboratory Medicine
    |February 1, 1987
    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

    Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity.

    Nutrition, metabolism, and cardiovascular diseases : NMCD·2013
    Same author

    Budd-Chiari syndrome secondary to toxic pyrrolizidine alkaloid exposure.

    Hong Kong medical journal = Xianggang yi xue za zhi·2013
    Same author

    Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.

    Hong Kong medical journal = Xianggang yi xue za zhi·2013
    Same author

    Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.

    Neurology·2010
    Same author

    A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

    Journal of inherited metabolic disease·2009
    Same author

    Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy.

    Neurology·2005

    Heterozygous women with X-linked adrenoleukodystrophy show varied symptoms, with some unaffected. This suggests differences between hemizygotes and heterozygotes are quantitative, not qualitative.

    Area of Science:

    • Neurogenetics
    • Endocrinology
    • Pathology

    Background:

    • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the adrenal glands and central nervous system.
    • Heterozygotes for X-ALD typically exhibit milder or no symptoms compared to hemizygotes.
    • Understanding the phenotypic variability in heterozygotes is crucial for accurate diagnosis and management.

    Observation:

    • Two women, heterozygous for X-ALD, were studied.
    • Both presented with striated adrenocortical cells but lacked inflammation and CNS demyelination.
    • Neurological symptoms were present in only one individual; neither had hypoadrenalism.

    Findings:

    • The study documents significant clinical and pathological variability among X-ALD heterozygotes.

    Related Experiment Videos

  • Findings suggest that the pathological differences between hemizygous and heterozygous X-ALD are primarily quantitative.
  • Adrenocortical cell changes can occur in heterozygotes without overt disease manifestation.

    • Implications:

    • These observations highlight the complex genetic and phenotypic expression of X-ALD in female carriers.
    • The quantitative nature of pathological differences implies a dose-dependent effect of the mutated gene.
    • Further research is needed to elucidate the specific factors contributing to the wide spectrum of X-ALD presentation in heterozygotes.