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Introduction
[edit]Kufor-Rakeb syndrome is an autosomal recessive disease.[1] It is a form of juvenile-onset atypical Parkinson disease (PARK9).[1] The OMIM number is 606693.[1] It was identified to be associated with chromosome 1p36, which was assigned PARK9.[2]
ATP13A2 gene mutations are associated with Kufor-Rakeb syndrome.[1] Patients have been identified to have iron in their basal ganglia.[1]
Signs and Symptoms
[edit]signs and symptoms
Diagnosis
[edit]Management or Treatment
[edit]Genetics
[edit]Epidemiology
[edit]References
[edit]- ^ a b c d e "Kufor-Rakeb syndrome - MeSH - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-04-26.
- ^ Williams, David R.; Hadeed, Ali; al-Din, Amir S. Najim; Wreikat, Abdel-Latif; Lees, Andrew J. (2005-10). "Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Movement Disorders: Official Journal of the Movement Disorder Society. 20 (10): 1264–1271. doi:10.1002/mds.20511. ISSN 0885-3185. PMID 15986421.
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