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55. Mutations in PARK9 (ATP13A2) causing Kufor-Rakeb syndrome, provide insights into cellular dysfunction in Parkinson’s disease

✍ Scribed by Jin-Sung Park; Carolyn M Sue


Book ID
116675818
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
44 KB
Volume
17
Category
Article
ISSN
0967-5868

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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