PMID- 27942883
OWN - NLM
STAT- MEDLINE
DCOM- 20180221
LR  - 20221207
IS  - 1435-1463 (Electronic)
IS  - 0300-9564 (Linking)
VI  - 124
IP  - 4
DP  - 2017 Apr
TI  - Mutation screening of PLA2G6 in Japanese patients with early onset 
      dystonia-parkinsonism.
PG  - 431-435
LID - 10.1007/s00702-016-1658-7 [doi]
AB  - A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal 
      dystrophy (INAD) and neurodegeneration associated with brain iron accumulation 
      (NBIA), has recently been shown to be responsible for PARK14-linked 
      dystonia-parkinsonism. To study the frequency of PLA2G6 mutations, including 
      those caused by gene rearrangement in patients with parkinsonism, we performed 
      direct sequencing and investigated copy number variations (CNVs) of this gene in 
      109 Japanese patients with parkinsonism. Direct sequencing revealed a homozygous 
      mutation (c.1495G>A; p.A499T), which is likely to be pathogenic and is already 
      registered as rs141045127, and two compound-heterozygous mutations we have 
      previously reported. No CNVs in PLA2G6 were detected in our subjects. Our results 
      suggest that CNV in PLA2G6 is rare in parkinsonism, at least in the Japanese 
      population, in contrast to the reports of its frequency in INAD. Further large 
      studies in various populations are warranted to elucidate what causes the 
      difference in frequencies of PLA2G6 rearrangement mutations between INAD and 
      dystonia-parkinsonism.
FAU - Yamashita, Chikara
AU  - Yamashita C
AD  - Department of Neurology, Juntendo University School of Medicine, 3-3-11 Hongo, 
      Bunkyo-ku, Tokyo, 113-8421, Japan.
FAU - Funayama, Manabu
AU  - Funayama M
AD  - Department of Neurology, Juntendo University School of Medicine, 3-3-11 Hongo, 
      Bunkyo-ku, Tokyo, 113-8421, Japan.
AD  - Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo 
      University, Tokyo, Japan.
FAU - Li, Yuanzhe
AU  - Li Y
AD  - Department of Neurology, Juntendo University School of Medicine, 3-3-11 Hongo, 
      Bunkyo-ku, Tokyo, 113-8421, Japan.
FAU - Yoshino, Hiroyo
AU  - Yoshino H
AD  - Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo 
      University, Tokyo, Japan.
FAU - Yamada, Hitoshi
AU  - Yamada H
AD  - Yokohama Neurology Clinic, Kanagawa, Japan.
FAU - Seino, Yusuke
AU  - Seino Y
AD  - Department of Neurology, Hirosaki Municipal Hospital, Aomori, Japan.
FAU - Tomiyama, Hiroyuki
AU  - Tomiyama H
AD  - Department of Neurology, Juntendo University School of Medicine, 3-3-11 Hongo, 
      Bunkyo-ku, Tokyo, 113-8421, Japan.
FAU - Hattori, Nobutaka
AU  - Hattori N
AD  - Department of Neurology, Juntendo University School of Medicine, 3-3-11 Hongo, 
      Bunkyo-ku, Tokyo, 113-8421, Japan. nhattori@juntendo.ac.jp.
AD  - Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo 
      University, Tokyo, Japan. nhattori@juntendo.ac.jp.
LA  - eng
PT  - Journal Article
DEP - 20161209
PL  - Austria
TA  - J Neural Transm (Vienna)
JT  - Journal of neural transmission (Vienna, Austria : 1996)
JID - 9702341
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Asian People/genetics
MH  - *DNA Copy Number Variations
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Female
MH  - Gene Dosage
MH  - Genetic Predisposition to Disease
MH  - *Genetic Testing/methods
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Parkinsonian Disorders/drug therapy/*genetics
MH  - Polymerase Chain Reaction
OTO - NOTNLM
OT  - Copy number variation (CNV)
OT  - PARK14
OT  - PLA2G6
OT  - Parkinsonism
EDAT- 2016/12/13 06:00
MHDA- 2018/02/22 06:00
CRDT- 2016/12/13 06:00
PHST- 2016/08/17 00:00 [received]
PHST- 2016/11/21 00:00 [accepted]
PHST- 2016/12/13 06:00 [pubmed]
PHST- 2018/02/22 06:00 [medline]
PHST- 2016/12/13 06:00 [entrez]
AID - 10.1007/s00702-016-1658-7 [pii]
AID - 10.1007/s00702-016-1658-7 [doi]
PST - ppublish
SO  - J Neural Transm (Vienna). 2017 Apr;124(4):431-435. doi: 
      10.1007/s00702-016-1658-7. Epub 2016 Dec 9.