Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesReport as inadecuate

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BMC Research Notes

, 9:295



BackgroundRecessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.

MethodTargeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing.

Results and conclusionWe identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.

KeywordsPLA2G6 Parkinsonism Saudi patients AbbreviationsArgarginine

CNScentral nervous system

DaT-SPECTdopamine transporter single-photon emission computed tomography

FDG-PETF-18-fluorodeoxyglucose positron emitting tomography

FLAIRfluid attenuated inversion recovery


HandYhoehn and yahr

INADinfantile neuroaxonal dystrophy

iPLA2-VIcalcium-independent group VI phospholipase A2

IRBInstitutional Review Board

KFSHRCKing Faisal Specialist Hospital and Research Center

MAOmonoamine oxidase

MMSEmini mental state examination

MRImagnetic resonance imaging

NBIAneurodegeneration with brain iron accumulation

NGSnext generation sequencing

OMIMonline Mendelian inheritance in man

PDParkinson’s disease

RACResearch Advisory Council

ROSreactive oxygen species


Electronic supplementary materialThe online version of this article doi:10.1186-s13104-016-2102-7 contains supplementary material, which is available to authorized users.

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Author: Saeed A. Bohlega - Bashayer R. Al-Mubarak - Eman A. Alyemni - Mohamed Abouelhoda - Dorota Monies - Abeer E. Mustafa - Da


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