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

MR findings in mannosidosis.

J L Dietemann1, M M Filippi de la Palavesa, C Tranchant

  • 1Service de Radiologie Médico-Chirurgicale B, Hôpital Central, Strasbourg, France.

Neuroradiology
|January 1, 1990
PubMed
Summary

Mannosidosis, a rare genetic disorder, presents distinct brain abnormalities on MRI scans. These findings, including cerebellar atrophy and white matter changes, aid in diagnosing this lysosomal storage disease.

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

Improvement of apathy in early Parkinson's disease.

NPJ Parkinson's disease·2025
Same author

French validation of the Quality of life in Essential Tremor Questionnaire (QUEST) and the Essential Tremor Embarrassment Assessment (ETEA).

Revue neurologique·2023
Same author

Early hyperdopaminergic state following sub-thalamic nucleus deep brain stimulation in Parkinson disease.

Revue neurologique·2022
Same author

Lack of pediatricians in sociomedical units (PASS) in France.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2022
Same author

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.

Journal of neurology·2022
Same author

Validation of a non-motor fluctuations questionnaire in Parkinson's disease.

Revue neurologique·2021

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Mannosidosis is a rare lysosomal storage disease.
  • It results from deficient alpha-mannosidase activity.
  • This leads to the accumulation of mannose-rich oligosaccharides in tissues.

Observation:

  • MR imaging was performed on three individuals from a family with mannosidosis.
  • The patients exhibited characteristic clinical and biological abnormalities.
  • Brain MRI included sagittal T1 and axial T2 sequences.

Findings:

  • Seven distinct MR modifications were observed: brachycephaly, thick calvaria, verticalized chiasmatic sulcus, poor sphenoid pneumatization, partial empty sella turcica, cerebellar atrophy, and white matter signal abnormalities.
  • Parieto-occipital white matter exhibited high signal intensity on T2-weighted scans.
  • These white matter changes are likely due to demyelination and gliosis.

Implications:

  • MRI findings can aid in the diagnosis and understanding of mannosidosis.
  • The observed abnormalities highlight the neurodegenerative aspects of the disease.
  • Further research can correlate imaging findings with disease progression and severity.

Related Experiment Videos