215. Pathogenic effects of novel mutations in ATP13A2 (PARK9) Causing Kufor-Rakeb Syndrome, an Autosomal Recessive Form of Early-onset Parkinsonism

Pathogenic effects of novel mutations in

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

✍ Jin-Sung Park; Prachi Mehta; Antony A. Cooper; David Veivers; André Heimbach; Ba 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB 👁 1 views

Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase. Recently, we identified novel compound heterozygous mutations, c.3176T4