PMID- 30868093
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2330-1619 (Electronic)
IS  - 2330-1619 (Linking)
VI  - 4
IP  - 1
DP  - 2017 Jan-Feb
TI  - Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum 
      Rather Than Three Discrete Phenotypes.
PG  - 125-128
LID - 10.1002/mdc3.12319 [doi]
AB  - PLA2G6-associated neurodegeneration comprises a heterogeneous spectrum of 
      age-related phenotypes, with three forms classically recognized, including 
      infantile neuroaxonal dystrophy (INAD) with onset in infancy, atypical 
      neuroaxonal dystrophy (atypical NAD) with onset in childhood, and 
      dystonia-parkinsonism (PARK14) with onset in early adulthood. We describe 3 cases 
      that challenge this view, discuss the related literature, and suggest that PLA2G6 
      mutations cause a phenotypic continuum rather than three discrete phenotypes, 
      further ensuing clinical implications.
FAU - Erro, Roberto
AU  - Erro R
AD  - Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of 
      Neurology London United Kingdom.
AD  - Dipartimento di Scienze Neurologiche e del Movimento Universita di Verona Verona 
      Italy.
FAU - Balint, Bettina
AU  - Balint B
AD  - Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of 
      Neurology London United Kingdom.
AD  - Department of Neurology University Hospital Heidelberg Heidelberg Germany.
FAU - Kurian, Manju A
AU  - Kurian MA
AD  - Molecular Neurosciences Developmental Neurosciences UCL-Institute of Child Health 
      London United Kingdom.
AD  - Department of Neurology Great Ormond Street Hospital London United Kingdom.
FAU - Brugger, Florian
AU  - Brugger F
AD  - Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of 
      Neurology London United Kingdom.
AD  - Department of Neurology Kantonsspital St. Gallen St. Gallen Switzerland.
FAU - Picillo, Marina
AU  - Picillo M
AD  - Department of Medicine and Surgery Neuroscience section Center for 
      Neurodegenerative diseases (CEMAND) University of Salerno Salerno Italy.
FAU - Barone, Paolo
AU  - Barone P
AD  - Department of Medicine and Surgery Neuroscience section Center for 
      Neurodegenerative diseases (CEMAND) University of Salerno Salerno Italy.
FAU - Bhatia, Kailash P
AU  - Bhatia KP
AD  - Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of 
      Neurology London United Kingdom.
FAU - Pellecchia, Maria Teresa
AU  - Pellecchia MT
AD  - Department of Medicine and Surgery Neuroscience section Center for 
      Neurodegenerative diseases (CEMAND) University of Salerno Salerno Italy.
LA  - eng
PT  - Case Reports
DEP - 20160331
PL  - United States
TA  - Mov Disord Clin Pract
JT  - Movement disorders clinical practice
JID - 101630279
PMC - PMC6407056
OTO - NOTNLM
OT  - NBIA
OT  - PARK14
OT  - PLA2G6
OT  - PLAN
OT  - iron accumulation
EDAT- 2016/03/31 00:00
MHDA- 2016/03/31 00:01
PMCR- 2017/03/31
CRDT- 2019/03/15 06:00
PHST- 2015/11/10 00:00 [received]
PHST- 2015/12/11 00:00 [revised]
PHST- 2015/12/13 00:00 [accepted]
PHST- 2019/03/15 06:00 [entrez]
PHST- 2016/03/31 00:00 [pubmed]
PHST- 2016/03/31 00:01 [medline]
PHST- 2017/03/31 00:00 [pmc-release]
AID - MDC312319 [pii]
AID - 10.1002/mdc3.12319 [doi]
PST - epublish
SO  - Mov Disord Clin Pract. 2016 Mar 31;4(1):125-128. doi: 10.1002/mdc3.12319. 
      eCollection 2017 Jan-Feb.