Citation, DOI and article data
Kufor-Rakeb syndrome, also known as Parkinson disease-9 (PARK9), is a rare neurodegenerative disease, considered a form of Mendelian parkinsonism.
This syndrome is very rare and was first described in an Arab consanguineous kindred 4. It has since been described in select families in other parts of the world.
Kufor-Rakeb syndrome has a juvenile onset, with features of Parkinson disease as well as additional features including spasticity, dementia and supranuclear gaze palsy 1,2.
The gene responsible has been named ATP13A2 and is located on chromosome 1p36 1,3. The disease has an autosomal recessive pattern of inheritance 1-3.
Initially marked atrophy is confined to the globus pallidus. Later in the disease, more global atrophy develops 1.
Treatment and prognosis
The parkinsonism in Kufor-Rakeb disease tends to be levodopa-responsive, other manifestations of the disease are managed symptomatically 2.
History and etymology
The disease is named after the Jordinian town of Kufr Rakeb where cases were first reported in 1994 4.
- 1. Dekker MC, Bonifati V, Van duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain. 2003;126 (Pt): 1722-33. doi:10.1093/brain/awg172 - Pubmed citation
- 2. Williams D, Hadeed A, al-Din A, Wreikat A, Lees A. Kufor Rakeb Disease: Autosomal Recessive, Levodopa-Responsive Parkinsonism with Pyramidal Degeneration, Supranuclear Gaze Palsy, and Dementia. Mov Disord. 2005;20(10):1264-71. doi:10.1002/mds.20511 - Pubmed
- 3. Eiberg H, Hansen L, Korbo L et al. Novel Mutation in ATP13A2 Widens the Spectrum of Kufor-Rakeb Syndrome (PARK9). Clin Genet. 2012;82(3):256-63. doi:10.1111/j.1399-0004.2011.01745.x - Pubmed
- 4. Najim al-Din A, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-Pyramidal Degeneration, Supranuclear Upgaze Paresis and Dementia: Kufor-Rakeb Syndrome. Acta Neurol Scand. 1994;89(5):347-52. doi:10.1111/j.1600-0404.1994.tb02645.x - Pubmed