The pathology of Sandhoff's disease

The Journal of Pathology
M G HadfieldR B David


We have presented the morbid anatomy of a case of Sandhoff's disease and have attempted to outline morphologic differences which distinguish this entity from other GM2 gangliosidoses. Yet, it may be well to maintain a sceptical eye. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are overshadowed by the similarities. For these reasons, a definitive diagnosis must rest with the biochemist. Nevertheless, if many bizarre MCB's are encountered, the enzyme defect may be expected to differ from that of classical Tay-Sachs disease and, when seen in endothelial cells, they favour Sandhoff's disease. More importantly, if prominent visceral storage is found, and especially if it extends beyond the reticuloendothelial system to involve such selective sites as the kidneys and pancreas, Sandhoff's disease should immediately come to mind. For the pathologist, it is this latter point which more readily sets apart Sandhoff's disease from related GM2 gangliosidoses.


Dec 19, 1975·Acta Neuropathologica·C M de BaecqueD L Whethers
Jun 1, 1974·Pediatric Research·M W SpenceJ A Tibbles
Sep 1, 1974·Beiträge Zur Pathologie·A TakahashiY Koizumi
Apr 1, 1971·Neurology·Y SuzukiK Suzuki
Aug 1, 1974·The Biochemical Journal·J L Stirling
Aug 9, 1974·Nature·M P Capdevila, A Garcia-Bellido
Oct 12, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y SuzukiY Ogawa
Jan 1, 1973·Humangenetik·H H Ropers, U Schwantes
Jul 1, 1974·The American Journal of Cardiology·L C BliedenH L Sharp
Dec 1, 1971·Journal of Neurochemistry·K SandhoffH Jatzkewitz


Oct 9, 2002·Neuropathology and Applied Neurobiology·M JeyakumarFrances M Platt
May 1, 1981·Acta Pathologica Japonica·M TatematsuT Ogiu
Jun 6, 2014·Nature·Frances M Platt

Related Concepts

Differential Diagnosis
Electron Microscopy

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.