R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
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.


CONCLUSIONS
We conclude that different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including INAD, NBIA and dystonia-parkinsonism.
Sina
F
F
Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
Shojaee
S
S
Elahi
E
E
Paisán-Ruiz
C
C
D000328:Adult; D003241:Consanguinity; D004421:Dystonia / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D054522:Group VI Phospholipases A2 / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D020734:Parkinsonian Disorders / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human