Kufor-Rakeb syndrome

Kufor–Rakeb syndrome

Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693. Less than 50 individuals have been reported to have KRS. Typically, rapid onset of symptoms occurs between the ages of 12 and 16. It is important to conduct genetic testing to screen family members, so the disease can be detected early and symptoms can be managed. ATP13A2 gene mutations are associated with Kufor–Rakeb syndrome, first identified in 2010. This syndrome is identified to have a compound heterozygous or homozygous mutation in the ATP13A2 gene. This mutation is located on chromosome 1 and codes for a lysosomal type 5 ATPase. Patients have been identified to have iron in their basal ganglia evident on MRI scans, which has led it to be included as a type of neurodegeneration with brain iron accumulation disorder. There are no current disease-modifying treatments so treatment focusses on improving symptoms and supportive therapies.