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Tay-Sachs disease

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Arthur and Frankel
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  • Nora Kemshead Arthur (1923 - 1924)
    Death notice for Nora Kemshead Arthur[ ]On the death notice, the cause of death is given as “familial amaurotic idiocy” (the outdated term for Tay-Sachs disease).
  • Jeffrey Jay Frankel (1946 - 1947)
    Jeffrey sadly died of Tay Sachs disease.

Tay-Sachs disease is a rare genetic disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

The most common severe type, known as Infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl. They also develop an exaggerated startle reaction to loud noises. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. This is then followed by seizures, hearing loss, intellectual disability and paralysis (inability to move). Death usually occurs in early childhood.

  • Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.
    • Juvenile - a form with a range of severity, with symptoms appearing any time during childhood (but usually between ages 2 and 5). Symptoms include behavior problems, gradual loss of skills, frequent respiratory infections, and seizures. People with this form typically do not survive past their teenage years.
    • Late onset/adult - the least severe form, with symptoms appearing in late childhood to adulthood. Symptoms may include clumsiness, muscle weakness, psychiatric disorders, and gradual loss of skills, often leading to the need for mobility assistance. Intellect and behavior become impaired in some cases. The lifespan varies from shortened to unaffected. Late-onset Tay-Sachs disease, which affects adults, is very rare.

There is no treatment or cure for Tay-Sachs disease, nor is there any way to prevent or reduce the progression of this disorder.

Other Names for this condition:

  • B variant GM2 gangliosidosis
  • GM2 gangliosidosis, type 1
  • HexA deficiency
  • Hexosaminidase A deficiency
  • Hexosaminidase alpha-subunit deficiency (variant B)
  • Sphingolipidosis, Tay-Sachs
  • TSD

Causes:

Tay-Sachs disease occurs when the body lacks hexosaminidase A (HEXA). This is a protein that helps break down a group of chemicals found in nerve tissue called gangliosides, a fatty substance. Without this protein, gangliosides, particularly ganglioside GM2, build up to toxic levels in cells, often nerve cells in the brain.

Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene, one from each parent, in order to become sick. If only one parent passes the defective gene to the child, the child is called a carrier. They will not be sick, but may pass the disease to their own children.

Anyone can be a carrier of Tay-Sachs. But, the disease is most common among the Ashkenazi Jewish population. One in every 27 members of the population carries the Tay-Sachs gene.

Frequency/Risk factors:

Tay-Sachs disease is very rare in the general population. (Only 1 in 6400 babies.)

  • The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.
    • The mutations responsible for this disease are also more common in certain non-Jewish populations in French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana.
  • Each year, about 16 cases of Tay-Sachs are diagnosed in the United States.
  • Ashkenazi Jewish Carrier Frequency: 1 in 27
  • Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 125
  • As of 2010, even with the best care, children with infantile Tay–Sachs disease usually die by the age of 4. Children with the juvenile form are likely to die from the ages 5-15, while those with the adult form will probably not be affected.
  • There is also no cure.

Inheritance Pattern

This condition is inherited in an autosomal recessive pattern, which means copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

  • The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disease typically do not have any signs or symptoms (they are "unaffected"). When 2 carriers of an autosomal recessive disease have children, each child has a:
    • 1 in 4 chance to have the disease
    • 1 in 2 chance to be an unaffected carrier like each parent
    • 1 in 4 chance to be unaffected and not a carrier

History

Waren Tay and Bernard Sachs, two physicians, described the disease's progression and provided differential diagnostic criteria to distinguish it from other neurological disorders with similar symptoms.

Both Tay and Sachs reported their first cases among Ashkenazi Jewish families. Tay reported his observations in 1881 in the first volume of the proceedings of the British Ophthalmological Society, of which he was a founding member. By 1884, he had seen three cases in a single family. Years later, Bernard Sachs, an American neurologist, reported similar findings when he reported a case of "arrested cerebral development" to other New York Neurological Society members.

Sachs, who recognized that the disease had a familial basis, proposed that the disease should be called amaurotic familial idiocy. However, its genetic basis was still poorly understood. Although Gregor Mendel had published his article on the genetics of peas in 1865, Mendel's paper was largely forgotten for more than a generation – not rediscovered by other scientists until 1899. Thus, the Mendelian model for explaining Tay–Sachs was unavailable to scientists and doctors of the time.

Patient Support & Advocacy Resources

Here are just a few examples:

Resources & Further Reading
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