Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

• Published in: BMC research notes Vol. 9; no. 1; p. 295
• Main Authors: Bohlega, Saeed A., Al-Mubarak, Bashayer R., Alyemni, Eman A., Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E., Khalil, Dania S., Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I., Al Tassan, Nada A.
• Format: Journal Article
• Language: English
• Published: London BioMed Central 07.06.2016; BioMed Central Ltd
• Subjects: Adult; Biomedical and Life Sciences; Biomedicine; Brain research; Degeneration; Dopamine; Ethics; Experiments; Families & family life; Family Health; Female; Funding; Genetic aspects; Genetic disorders; Genetic Heterogeneity; Genetics; Genomes; Genotype; Group VI Phospholipases A2 - genetics; Haplotypes; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Iron; Life Sciences; Male; Medicine/Public Health; Mutation; Mutation, Missense; Nervous system; Neurodegeneration; NMR; Nuclear magnetic resonance; Oxidative stress; Parkinson's disease; Parkinsonian Disorders - genetics; Parkinsonian Disorders - pathology; Pedigree; Research Article; Research centers; Saudi Arabia; Tomography; Saudi Arabia; Parkinsonism; Saudi patients; PLA2G6
• ISSN: 1756-0500; 1756-0500
• DOI: 10.1186/s13104-016-2102-7

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.