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

Polyglucosan body disease simulating amyotrophic lateral sclerosis

T D McDonald1, P L Faust, C Bruno

  • 1Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY.

Neurology
|April 1, 1993
PubMed
Summary

Polyglucosan body disease (PBD) can present with amyotrophic lateral sclerosis (ALS) symptoms. This study highlights PBD

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

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Journal of neurology·2026
Same author

Lateral Approach to the Cervical Spine to Manage Degenerative Cervical Myelopathy and Radiculopathy.

Acta neurochirurgica. Supplement·2023
Same author

Combined evaluation of prolactin-induced peptide (PIP) and extracellular signal-regulated kinase (ERK) as new sperm biomarkers of FSH treatment efficacy in normogonadotropic idiopathic infertile men.

Journal of endocrinological investigation·2023
Same author

Border-associated macrophages mediate the neuroinflammatory response in an alpha-synuclein model of Parkinson disease.

Nature communications·2023
Same author

Non-thyroidal illness syndrome in chronic diseases: role of irisin as modulator of antioxidants.

European review for medical and pharmacological sciences·2023
Same author

Increased levels of plasma neudesin in adult growth hormone deficiency and their relationship with plasma liver-expressed antimicrobial peptide-2 levels: a cross-sectional study.

Journal of endocrinological investigation·2022

Area of Science:

  • Neurology
  • Biochemistry
  • Genetics

Background:

  • Polyglucosan body disease (PBD) is a rare metabolic disorder.
  • It is characterized by the accumulation of polyglucosan bodies (PB).
  • PBD can present with diverse clinical manifestations.

Observation:

  • Two patients with PBD exhibited atypical amyotrophic lateral sclerosis (ALS) features.
  • Patient 1 presented with dementia; Patient 2 had urinary incontinence.
  • Autopsy revealed widespread PB in the central nervous system, peripheral nerve, and myocardium.

Findings:

  • Brancher enzyme activity was normal in patient 1's nerve and muscle.
  • Patient 2 showed reduced brancher enzyme activity in nerve but not leukocytes.
  • This suggests biochemical heterogeneity in PBD, particularly in Ashkenazi patients.

Related Experiment Videos

Implications:

  • PBD should be considered in patients with atypical ALS.
  • Genetic heterogeneity influences brancher enzyme activity in PBD.
  • Further research is needed to understand the full spectrum of PBD pathology and genetics.