Cure SPG47 is now known as Cure AP-4
Due to the shared Natural History Study and International Patient Registry of the four AP-4 related subtypes of Hereditary Spastic Paraplegia, Cure SPG47 has recently expanded its non-profit mission. The organization has been re-branded as Cure AP-4, and we now support families and research projects for SPG47, SPG50, SPG51 and SPG52.
Each of these HSP sub-types is associated with a defective autosomal recessive gene which causes a failure in the AP-4 Adaptor Complex. The phenotype and prognosis for each of the four sub-types is extremely similar. Patients afflicted with any of the AP-4 HSP genetic disorders 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 ~150 confirmed cases of AP-4 HSP in the world at this time, most patients have progressed to loss of mobility in some or all extremities, and are severely intellectually challenged. Because of the extreme rarity of AP-4 HSP, very little research has been conducted to date, and there is no known treatment or cure at this time.