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

Cherry-red spot-myoclonus syndrome.

R L Sogg, L Steinman, B Rathjen

    Ophthalmology
    |October 1, 1979
    PubMed
    Summary

    Cherry-red spot-myoclonus syndrome (CRSM) is a rare genetic disorder. This case study highlights typical clinical and biochemical findings, including reduced neuraminidase activity, in a young woman with CRSM.

    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

    Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.

    Ophthalmology·2005
    Same author

    [New automated microkeratome for trepanation of lamellar keratoplasty].

    Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2002
    Same author

    Discovery of beta-hexosaminidase A deficiency in Tay-Sachs disease.

    Advances in genetics·2001
    Same author

    TX14(A), a prosaposin-derived peptide, reverses established nerve disorders in streptozotocin-diabetic rats and prevents them in galactose-fed rats.

    Journal of neuropathology and experimental neurology·2001
    Same author

    Prosaposin-derived peptides enhanced sprouting of sensory neurons in vitro and induced sprouting at motor endplates in vivo.

    Journal of the peripheral nervous system : JPNS·2001
    Same author

    Prosaposin is immunolocalized to muscle and prosaptides promote myoblast fusion and attenuate loss of muscle mass after nerve injury.

    Muscle & nerve·2001

    Area of Science:

    • Ophthalmology
    • Genetics
    • Neurology

    Background:

    • Cherry-red spot-myoclonus syndrome (CRSM) is a rare inherited lysosomal storage disorder.
    • It is characterized by progressive myoclonus epilepsy, ataxia, and visual impairment.

    Observation:

    • A 21-year-old woman presented with typical CRSM symptoms, including reduced visual acuity (20/50), ocular oscillations, nystagmus, and cherry-red maculas.
    • Neurological examination revealed optic atrophy, and visual evoked potentials were significantly diminished, while electroretinography remained normal.

    Findings:

    • Biochemical analysis showed significantly reduced neuraminidase enzyme activity in cultured fibroblasts from the patient and her parents.
    • Lysosomal inclusions, likely containing oligosaccharides, were identified in the patient's conjunctival fibroblasts, confirming the diagnosis.

    Implications:

    • This case reinforces the characteristic clinical and biochemical profile of CRSM.
    • Early diagnosis through enzyme assays and genetic testing is crucial for potential management strategies.
    • Understanding the pathophysiology aids in developing targeted therapies for this rare neurological disorder.

    Related Experiment Videos