Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Sandhoff disease

M Tatematsu, K Imaida, N Ito

Acta Pathologica Japonica

|May 1, 1981

Summary

This summary is machine-generated.

Sandhoff disease, a rare genetic disorder, involves a total deficiency of the enzyme hexosaminidase. This autopsy case highlights widespread cellular accumulation of specific lipids in a young boy, confirming the 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

Massive intracranial hemorrhage caused by neonatal alloimmune thrombocytopenia associated with anti-group A antibody.

Journal of perinatology : official journal of the California Perinatal Association·2012

Same author

Immunohistochemically demonstrated androgen receptor expression in the rat prostate during carcinogenesis induced by 3,2'-dimethyl-4-aminobiphenyl with or without testosterone.

Urologic oncology·2011

Same author

Equivocal colonic carcinogenicity of Aloe arborescens Miller var. natalensis berger at high-dose level in a Wistar Hannover rat 2-y study.

Journal of food science·2009

Same author

Antioxidant effects of flavonoids used as food additives (purple corn color, enzymatically modified isoquercitrin, and isoquercitrin) on liver carcinogenesis in a rat medium-term bioassay.

Journal of food science·2008

Same author

Promotion potential of madder color in a medium-term multi-organ carcinogenesis bioassay model in F344 rats.

Journal of food science·2008

Same author

Thirteen-week feeding study of thaumatin (a natural proteinaceous sweetener), sterilized by electron beam irradiation, in Sprague-Dawley rats.

Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association·2005

Area of Science:

Neuropathology
Biochemistry
Genetics

Background:

Sandhoff disease is a rare, fatal neurodegenerative lysosomal storage disorder.
It results from mutations in the HEXB gene, leading to a deficiency of beta-hexosaminidase B and A enzymes.

Observation:

Autopsy of a 2-year-old boy with Sandhoff disease revealed widespread accumulation of Luxol fast blue-positive material.
Histochemical and electron microscopic analyses identified electrondense membranous bodies in various tissues, including the central and peripheral nervous systems, liver, kidneys, and spleen.

Findings:

Enzyme assays confirmed a total deficiency of hexosaminidase in serum, brain, and liver.
Lipid analysis showed marked elevations of ganglioside GM2 and its asialo derivative in the brain and liver, along with globoside accumulation in the liver, kidney, and spleen.

Related Experiment Videos

Implications:

This case underscores the extensive systemic involvement in Sandhoff disease beyond the central nervous system.
Understanding the full spectrum of lipid accumulation is crucial for developing targeted therapies and improving diagnostic approaches for lysosomal storage disorders.