NINDS supports the Lysosomal Disease Network, a network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. NINDS-funded research focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded researchers are expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.
Information from the National Library of Medicine’s MedlinePlus
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder. Onset of the disorder usually occurs at 6 months of age. Symptoms may include:
- progressive nervous system deterioration,
- problems initiating and controlling muscles and movement,
- increased startle reaction to sound,
- early blindness,
- spasticity (non-voluntary and awkward movement),
- myoclonus (shock-like contractions of a muscle,
- macrocephaly (an abnormally enlarged head),
- cherry-red spots in the eyes,
- frequent respiratory infections,
- doll-like facial appearance, and
- enlarged liver and spleen.
There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures.
The prognosis for individuals with Sandhoff disease is poor. Death usually occurs by age 3 and is generally caused by respiratory infections.