## Abstract We report the clinical features of the original Chilean family with Kufor‐Rakeb syndrome (KRS) that led to the discovery of the __ATP13A2__ gene at the PARK9 locus. KRS is a rare juvenile‐onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and c
✦ LIBER ✦
Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene
✍ Scribed by Elena Radi; Patrizia Formichi; Giuseppe Di Maio; Carla Battisti; Antonio Federico
- Book ID
- 119857595
- Publisher
- Carol Davila University of Medicine Bucharest, Romania
- Year
- 2012
- Tongue
- English
- Weight
- 763 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1582-1838
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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
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