What is SPG47?
Hereditary Spastic Paraplegia, type 47, otherwise known as "SPG47", is an ultra-rare neurodegenerative disease. Children afflicted with this genetic disorder generally present with symptoms including global developmental delay, microcephaly, seizures, malformation of the brain, and hypotonia (low-muscle tone). The few patients that learn to walk independently tend to lose that ability a few months or a few years later as they develop hypertonia (high-muscle tone) and muscle spasticity. Of the ~50 confirmed cases of SPG47 in the world at this time, the first 9 patients have progressed to loss of mobility in some or all extremities, and are severely intellectually challenged. Because of the extreme rarity of SPG47, very little research has been conducted to date, and there is no known treatment or cure at this time.
SPG47 is caused by a mutation in the AP4B1 gene. It is an autosomal recessive disease, which means that both parents have contributed a defective recessive gene to the child. The result is that the child is unable to correctly produce a protein which is required for proper functioning of the AP-4 adaptor complex. The area of highest expression is central motor neorons located in the hippocampus region of the brain. It is also now known that a downstream effect of AP4 malfunction is a deficiency with an autophagy compound called ATG9A.
The Cure SPG47 non-profit organization was founded in 2016 by families of two of the known patients. We refuse to accept the bleak prognosis which our children face. We have decided to fight. The purpose of this organization is to study and seek a cure for SPG47. We aim to improve the quality of life for children impacted by SPG47 by accelerating the research for a cure or treatment and providing financial support for patient therapies critical to their well-being and rehabilitation.