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http://purl.uniprot.org/citations/27268037http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27268037http://www.w3.org/2000/01/rdf-schema#comment"

Background

Recessive 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.

Method

Targeted-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 conclusion

We 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."xsd:string
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http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Abouelhoda M."xsd:string
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http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Bohlega S.A."xsd:string
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http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"El-Kalioby M."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Faquih T."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Al Tassan N.A."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Tahir A.I."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Abou Al-Shaar H."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Al Haibi S."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Al-Mubarak B.R."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Alyemni E.A."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/author"Mustafa A.E."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/name"BMC Res Notes"xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/pages"295"xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/title"Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families."xsd:string
http://purl.uniprot.org/citations/27268037http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/27268037http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27268037
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http://purl.uniprot.org/uniprot/#_B3KU52-mappedCitation-27268037http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27268037
http://purl.uniprot.org/uniprot/#_B7Z6K3-mappedCitation-27268037http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27268037
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