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Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

✍ Scribed by David Crosiers; Berten Ceulemans; Bram Meeus; Karen Nuytemans; Philippe Pals; Christine Van Broeckhoven; Patrick Cras; Jessie Theuns


Book ID
116820870
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
397 KB
Volume
17
Category
Article
ISSN
1353-8020

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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