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

Autor:	Bohlega SA; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia., Al-Mubarak BR; Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia. BAl-Mubarak@kfshrc.edu.sa., Alyemni EA; Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia., Abouelhoda M; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Mustafa AE; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Khalil DS; Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia., Al Haibi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Abou Al-Shaar H; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia., Faquih T; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., El-Kalioby M; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Tahir AI; Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia., Al Tassan NA; Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh, 11211, Saudi Arabia.; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	BMC research notes [BMC Res Notes] 2016 Jun 07; Vol. 9, pp. 295. Date of Electronic Publication: 2016 Jun 07.
DOI:	10.1186/s13104-016-2102-7
Abstrakt:	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.
Databáze:	MEDLINE
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