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First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene

L.K. Prashanth, Sakthivel Murugan, Vikram Kamath, Ravi Gupta, Rakesh Jadav, S. Sreekantaswamy and Vedam L. Ramprasad (2015). Movement Disorders – Clinical Practice, Vol. 2, Issue 3.

Kufor-Rakeb syndrome (KRS; PARK 9) is a rare autosomal-recessive form of juvenile-onset Parkinson’s disease (PD) caused by ATP13A2 gene mutations. The classical description of KRS is that of rapidly progressive symptoms in the form of parkinsonism, spasticity, supranuclear upgaze paresis, facial-faucial-finger minimyoclonus, visual hallucinations, oculogyric dystonic spasms, and dementia, usually noted between 12 and 16 years of age, resulting in early severe motor handicap.[1] World-wide prevalence of KRS is unknown, with only case reports/series being published.[2, 3] We report on the first case of KRS from India, with previously unreported nonsense mutation in exon 22 ofATP13A2 gene (chr1: 17316187; G>A).

  https://www.movementdisorders.org/MDS/Journals/Clinical-Practice-E-Journal-Overview/Movement-Disorders-Clinical-Practice-Vol-2-Issue-3/First-Report-of-Kufor-Rakeb-Syndrome-PARK9.htm

 

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