Sandhoff DiseaseSymptoms, Doctors, Treatments, Advances & More
Sandhoff Disease Overview
Learn About Sandhoff Disease
Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult.
Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these two enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.
Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Cynthia Tifft is a Medical Genetics provider practicing medicine in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.
Jagdeep Walia practices practicing medicine in Kingston, Canada. Mr. Walia is rated as an Elite expert by MediFind in the treatment of Sandhoff Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Sandhoff Disease, Tay-Sachs Disease, Gangliosidosis, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Frances Platt practices practicing medicine in Oxford, United Kingdom. Ms. Platt is rated as an Elite expert by MediFind in the treatment of Sandhoff Disease. She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Niemann-Pick Disease, Sandhoff Disease, Non-Langerhans-Cell Histiocytosis, and Histiocytosis.
Summary: Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitat...
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: December 15, 2021
Published By: National Institutes of Health