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117. Clinical, neurophysiological and genetic observations in kufor-rakeb syndrome: report of a new kindred with compound heterozygous mutations in the ATP13A2 Gene

✍ Scribed by Victor S.C. Fung; Prachi Mehta; Neil Manwaring; Carolyn M. Sue; Christian Kubisch

Book ID: 116674748
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 40 KB
Volume: 16
Category: Article
ISSN: 0967-5868
DOI: 10.1016/j.jocn.2008.07.016

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## 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