What is Sandhoff disease?

Sandhoff or Tay-sachs disease is a rare, inheritable disorder that destroys nerve cells in the brain and spinal cord. This disease mutates the HEXB gene which is the genes used to create beta-hexosaminidase A and beta-hexosaminidase B proteins. This disease usually is seen at the age of 3 to 6 months. Babies with this disease usually dies at the age of 3 years.

• Loss of motor skills
• Seizures
• Enlarged lungs
• Cherry-red spot (picture of it in symptoms page)
• bone abnormalities
• intellectual disability
• paralysis

The discovery of Sandhoff disease is by two scientist named. Warren Tay and Bernard Sachs. Warren Tay was an ophthalmologist and Bernard Sachs was a neurologist. Warren noticed a repeating cases of babies getting cherry-red spot and said that babies with cherry-red spot would have Sandhoff disease. Then Bernard Sachs came in and provided the first ever description of Sandhoff disease. Dr. Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Sandhoff disease at that time were of Eastern European Jewish origin. Today, Sandhoff disease occurs among people of all backgrounds. In August 1969, Dr. Shintaro Okada and Dr. John S. O'Brien published the discovery of the Hexosaminidase A deficiency in Sandhoff disease, and in May 1971, the first Sandhoff disease community screning event took place in Bethesda, Maryland.

Now Sandhoff disease seems to occurs the most in the population of northern Argentina and in Mtis Indians in Saskatchewan, Canada.

Incidence Rate

There are less than 2,000 people right now in America that has this disease or a subtype of this disease. This is considered a "rare disease." Internationally there is a one in 2,000 chance of someone getting this disease.

• Research in finding a cure towards Sandhoff disease
• There is no treatment to be found right now
• For someone to be diagnosed with Sandhoff disease they must go through genetic testing and have a sign
• In this research, scientist found an Adeno associated virus (AAV) that can increase the life span of mice with Sandhoff disease
• The life span of the mice increased to around 24 weeks which is a 55% increase

Genetic Pattern of Inheritance

This disease is ressesive

Sandhoff disease is a progressive neurodegenerative disorder

Citations

“beta-hexosaminidase subunit beta isoform 1 preproprotein [Homo sapiens].” NBIC, U.S. National Library of Medicine, 2016, www.ncbi.nlm.nih.gov/. Accessed 31 Jan. 2017.

“History of Tay-Sachs Disease.” National Tay-Sachs & Allied Disease Association, National Tay-Sachs and Allied Diseases, Inc., 3 Mar. 2015, www.ntsad.org/. Accessed 5 Feb. 2017.

“Our Lilianna & Sandhoff Disease.” Youtube, uploaded by JM Mellies, Google Inc., 17 Nov. 2007, www.youtube.com/watch?v=hxqeZ_tOvmQ. Accessed 3 Jan. 2017.

“Sandhoff Disease.” Genetic Home Reference, National Library of Medicine, 24 Jan. 2017, www.ghr.nlm.nih.gov/. Accessed 31 Jan. 2017.

“Tay-Sachs Gene Therapy Consortium.” National Tay-Sachs & Allied Disease Association, National Tay-Sachs and Allied Diseases, Inc., 7 Oct. 2016, www.ntsad.org/. Accessed 5 Feb. 2017.

Waren Tay. Wordpress, Automattic, 14 Apr. 2014, www.maddyduplessis.wordpress.com/. Accessed 4 Feb. 2017.

Woodly, Evan J. R., et al. “Enhancement of Gene Therapy Treatment for Sandhoff Disease Through Complimentary Drug Therapy.” Molecular Therapy, vol. 24, no. 1, May 2016, www.cell.com/. Accessed 1 Jan. 2017.