PMID- 26196026
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150721
LR  - 20200603
IS  - 2160-8288 (Print)
IS  - 2160-8288 (Electronic)
IS  - 2160-8288 (Linking)
VI  - 5
DP  - 2015
TI  - PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.
PG  - 317
LID - 10.7916/D84Q7T4W [doi]
LID - 317
AB  - BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 
      mutations is a recessively inherited disorder with three known phenotypes: the 
      typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset 
      form (atypical NAD); and the more recently recognized young-onset 
      dystonia-parkinsonism (PLAN-DP). CASE REPORT: We report the clinical, 
      radiological, and genetic findings of a young Pakistani male with PLAN-DP. We 
      review 11 previously published case reports cited in PubMed, and summarize the 
      demographic, clinical, genetic, and radiological data of the 23 patients 
      described in those articles. DISCUSSION: PLAN-DP presents with diverse motor, 
      autonomic, and neuropsychiatric features and should be considered in the 
      differential diagnosis of patients with young-onset neurodegenerative disorders.
FAU - Karkheiran, Siamak
AU  - Karkheiran S
AD  - Movement  Disorders Clinic, Hazrat Rasool Hospital, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Shahidi, Gholam Ali
AU  - Shahidi GA
AD  - Movement  Disorders Clinic, Hazrat Rasool Hospital, Iran University of Medical 
      Sciences, Tehran, Iran.
FAU - Walker, Ruth H
AU  - Walker RH
AD  - Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, 
      NY, USA ; Department of Neurology, Icahn School of Medicine at Mount Sinai, New 
      York, NY, USA.
FAU - Paisan-Ruiz, Coro
AU  - Paisan-Ruiz C
AD  - Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, 
      USA ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New 
      York, NY, USA ; Department of Genetics and Genomic Sciences, Icahn School of 
      Medicine at Mount Sinai, New York, NY, USA ; The Friedman Brain and The Mindich 
      Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, 
      New York, NY, USA.
LA  - eng
GR  - R01 NS079388/NS/NINDS NIH HHS/United States
PT  - Journal Article
DEP - 20150710
PL  - England
TA  - Tremor Other Hyperkinet Mov (N Y)
JT  - Tremor and other hyperkinetic movements (New York, N.Y.)
JID - 101569493
PMC - PMC4503963
OTO - NOTNLM
OT  - PLA2G6
OT  - PLAN-DP
OT  - young-onset neurodegenerative disease
COIS- Conflict of Interest: The authors report no conflict of interest.
EDAT- 2015/07/22 06:00
MHDA- 2015/07/22 06:01
PMCR- 2015/07/10
CRDT- 2015/07/22 06:00
PHST- 2015/04/14 00:00 [received]
PHST- 2015/06/08 00:00 [accepted]
PHST- 2015/07/22 06:00 [entrez]
PHST- 2015/07/22 06:00 [pubmed]
PHST- 2015/07/22 06:01 [medline]
PHST- 2015/07/10 00:00 [pmc-release]
AID - 10.7916/D84Q7T4W [doi]
PST - epublish
SO  - Tremor Other Hyperkinet Mov (N Y). 2015 Jul 10;5:317. doi: 10.7916/D84Q7T4W. 
      eCollection 2015.