Sandhoff disease

Common Name(s)

Sandhoff disease

Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Other forms of Sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. These forms are very rare. Sandhoff disease is caused by mutations in the HEXB gene. These mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is inherited in an autosomal recessive manner.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sandhoff disease" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sandhoff disease" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sandhoff disease" returned 33 free, full-text research articles on human participants. First 3 results:

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.
 

Author(s): Hatem Abo-Ouf, Alexander W M Hooper, Elizabeth J White, Helena J Janse van Rensburg, Bernardo L Trigatti, Suleiman A Igdoura

Journal: Hum. Mol. Genet.. 2013 Oct;22(19):3960-75.

 

Sandhoff disease (SD) is a lysosomal storage disorder caused by a lack of a functional β-subunit of the β-hexosaminidase A and B enzymes, leading to the accumulation of gangliosides in the central nervous system (CNS). The Hexb-/- mouse model of SD shows a progressive neurodegenerative ...

Last Updated: 9 Sep 2013

Go To URL
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
 

Author(s): Kenichiro Yamada, Yuhei Takado, Yusuke S Kato, Yasukazu Yamada, Hideaki Ishiguro, Nobuaki Wakamatsu

Journal: J. Biochem.. 2013 Jan;153(1):111-9.

 

The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the β-subunit of β-hexosaminidase, yet the properties of mutant β-subunits of the disease have not been fully determined. We identified ...

Last Updated: 24 Dec 2012

Go To URL
Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
 

Author(s): Stephanos Kyrkanides, Sabine M Brouxhon, Ross H Tallents, Jen-nie H Miller, John A Olschowka, M Kerry O'Banion

Journal:

 

This study evaluated whether GM(2) ganglioside storage is necessary for neurodegeneration and neuroinflammation by performing β-hexosaminidase rescue experiments in neurons of HexB(-/-) mice. We developed a novel mouse model, whereby the expression of the human HEXB gene was targeted ...

Last Updated: 27 Sep 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sandhoff disease" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for GM1/GM2 - Gangliosidoses
 

Status: Recruiting

Condition Summary: Gangliosidosis; GM1-Gangliosidosis; GM2-Gangliosidosis; Hexosaminidase Activator Deficiency; Tay-Sachs Disease, AB Variant; Hexosaminidase A and B Deficiency; Sandhoff Disease

 

Last Updated: 19 Nov 2014

Go to URL
A Natural History Study of the Gangliosidoses
 

Status: Recruiting

Condition Summary: Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

 

Last Updated: 14 Jul 2014

Go to URL
Gene Therapy for Tay-Sachs Disease
 

Status: Recruiting

Condition Summary: Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

 

Last Updated: 17 Dec 2013

Go to URL