PMID- 30619057
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 1664-2295 (Print)
IS  - 1664-2295 (Electronic)
IS  - 1664-2295 (Linking)
VI  - 9
DP  - 2018
TI  - PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and 
      Genotypes.
PG  - 1100
LID - 10.3389/fneur.2018.01100 [doi]
LID - 1100
AB  - Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a 
      series of neurodegenerative diseases that result from the mutations in PLA2G6. 
      PLAN has genetic and clinical heterogeneity, with different mutation sites, 
      mutation types and ethnicities and its clinical phenotype is different. The 
      clinical phenotypes and genotypes of PLAN are closely intertwined and vary 
      widely. PLA2G6 encodes a group of VIA calcium-independent phospholipase A2 
      proteins (iPLA(2)beta), an enzyme involved in lipid metabolism. According to the age 
      of onset and progressive clinical features, PLAN can be classified into the 
      following subtypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal 
      dystrophy (ANAD) and parkinsonian syndrome which contains adult onset dystonia 
      parkinsonism (DP) and autosomal recessive early-onset parkinsonism (AREP). In 
      this review, we present an overview of PLA2G6-associated neurodegeneration in the 
      context of current research.
FAU - Guo, Yu-Pei
AU  - Guo YP
AD  - Center for Brain Disorders Research, Capital Medical University and Beijing 
      Institute of Brain Disorders, Beijing, China.
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
FAU - Tang, Bei-Sha
AU  - Tang BS
AD  - Center for Brain Disorders Research, Capital Medical University and Beijing 
      Institute of Brain Disorders, Beijing, China.
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
AD  - National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, 
      Central South University, Changsha, China.
AD  - Center for Medical Genetics, Central South University, Changsha, China.
AD  - Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South 
      University, Changsha, China.
FAU - Guo, Ji-Feng
AU  - Guo JF
AD  - Department of Neurology, Xiangya Hospital, Central South University, Changsha, 
      China.
AD  - National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, 
      Central South University, Changsha, China.
AD  - Center for Medical Genetics, Central South University, Changsha, China.
AD  - Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South 
      University, Changsha, China.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20181218
PL  - Switzerland
TA  - Front Neurol
JT  - Frontiers in neurology
JID - 101546899
PMC - PMC6305538
OTO - NOTNLM
OT  - ANAD
OT  - AREP
OT  - DP
OT  - INAD
OT  - PLA2G6
OT  - PLAN
OT  - iPLA2beta
EDAT- 2019/01/09 06:00
MHDA- 2019/01/09 06:01
PMCR- 2018/12/18
CRDT- 2019/01/09 06:00
PHST- 2018/08/24 00:00 [received]
PHST- 2018/12/03 00:00 [accepted]
PHST- 2019/01/09 06:00 [entrez]
PHST- 2019/01/09 06:00 [pubmed]
PHST- 2019/01/09 06:01 [medline]
PHST- 2018/12/18 00:00 [pmc-release]
AID - 10.3389/fneur.2018.01100 [doi]
PST - epublish
SO  - Front Neurol. 2018 Dec 18;9:1100. doi: 10.3389/fneur.2018.01100. eCollection 
      2018.