PMID- 19087156
OWN - NLM
STAT- MEDLINE
DCOM- 20121018
LR  - 20151113
IS  - 1468-1331 (Electronic)
IS  - 1351-5101 (Linking)
VI  - 16
IP  - 1
DP  - 2009 Jan
TI  - R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a 
      consanguineous Iranian family.
PG  - 101-4
LID - 10.1111/j.1468-1331.2008.02356.x [doi]
AB  - BACKGROUND: PLA2G6 mutations are known to be responsible for infantile 
      neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation 
      (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with 
      dystonia-parkinsonism in two unrelated consanguineous families. METHODS: Direct 
      sequencing analysis of the PLA2G6 gene. RESULTS: Here, we report the segregation 
      of R632W with disease in an Iranian consanguineous dystonia-parkinsonism 
      pedigree. The identical mutation was previously observed in a patient affected 
      with NBIA. CONCLUSION: We conclude that different and even identical PLA2G6 
      mutations may cause neurodegenerative diseases with heterogeneous clinical 
      manifestations, including INAD, NBIA and dystonia-parkinsonism.
FAU - Sina, F
AU  - Sina F
AD  - Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
FAU - Shojaee, S
AU  - Shojaee S
FAU - Elahi, E
AU  - Elahi E
FAU - Paisan-Ruiz, C
AU  - Paisan-Ruiz C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Neurol
JT  - European journal of neurology
JID - 9506311
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Adult
MH  - Consanguinity
MH  - Dystonia/*enzymology/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease/*genetics
MH  - Genotype
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Iran
MH  - Male
MH  - Parkinsonian Disorders/enzymology/*genetics
MH  - Pedigree
MH  - Point Mutation/*genetics
MH  - Young Adult
EDAT- 2008/12/18 09:00
MHDA- 2012/10/19 06:00
CRDT- 2008/12/18 09:00
PHST- 2008/12/18 09:00 [entrez]
PHST- 2008/12/18 09:00 [pubmed]
PHST- 2012/10/19 06:00 [medline]
AID - ENE2356 [pii]
AID - 10.1111/j.1468-1331.2008.02356.x [doi]
PST - ppublish
SO  - Eur J Neurol. 2009 Jan;16(1):101-4. doi: 10.1111/j.1468-1331.2008.02356.x.