PARK9 (from Dekker MC et al. 2003 and Chung KK et al. 2003)
Kufor-Rakeb syndrome is a juvenile-onset neurodegenerative disorder with an autosomal recessive pattern of inheritance. The first clinical report on an Arab consanguineous kindred dated from 1994 (Najim al-Din et al., 1994). The name of the syndrome denotes the area of origin of the kindred. Kufor-Rakeb syndrome clinically resembled typical Parkinson's disease, with a good response to levodopa treatment with respect to the extrapyramidal dysfunction.
Although listed as a Mendelian parkinsonism, there were many additional features of the PARK9 phenotype (spasticity, dementia and supranuclear gaze paralysis) which did not resemble typical Parkinson's disease. On neuroimaging, there was significant atrophy of the globus pallidus, which in a later stage became generalized. No neuropathological data are available. Linkage to a region of 9 cM on chromosome 1p36 was described in 2001 (Hampshire et al., 2001).