PARK9 -LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE
2008; Lippincott Williams & Wilkins; Volume: 70; Issue: 16_part_2 Linguagem: Inglês
10.1212/01.wnl.0000310427.72236.68
ISSN1526-632X
AutoresYifan Ning, Kazuaki Kanai, Hiroyuki Tomiyama, Yamin Li, Manabu Funayama, Hideaki Yoshino, Shigeto Sato, Masato Asahina, Satoshi Kuwabara, Atsushi Takeda, Takamichi Hattori, Yoshikuni Mizuno, Nobutaka Hattori,
Tópico(s)Cellular transport and secretion
ResumoPARK9, a form of autosomal recessive parkinsonism, or Kufor-Rakeb syndrome (KRS), is characterized by subacute or slowly progressive, juvenile-onset, levodopa-responsive parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy.1–5 Recently, ATP13A2 was identified as the causative gene for PARK9 in Chilean and Jordanian families.4 This gene contains 29 exons encoding a lysosomal type 5 P-type ATPase. Six mutations have been reported in only five probands so far.4,5 Here, we describe a Japanese patient with KRS with a novel mutation who developed early onset parkinsonism, dementia, and other features. We also describe PET findings of PARK9 -linked parkinsonism. ### Methods. Haplotype analysis was conducted in 117 (mainly Japanese) patients with early onset (≤50, 26.8 ± 11.7 years, mean ± SD) parkinsonism. Among them, 14 patients had dementia. Patients who exhibited homozygosity on PARK9 locus by haplotype analysis underwent direct sequencing for all 29 exons (e-Methods on the Neurology ® Web site at www.neurology.org); the remaining patients underwent direct sequencing for exons 13, 16, and 26, in which mutations …
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