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

被引：20

作者：

Bohlega S.A. ^{[1
]}

Al-Mubarak B.R. ^{[2
,3
]}

Alyemni E.A. ^{[2
,3
]}

Abouelhoda M. ^{[4
]}

Monies D. ^{[3
,4
]}

Mustafa A.E. ^{[4
]}

Khalil D.S. ^{[2
,3
]}

Al Haibi S. ^{[3
,4
]}

Abou Al-Shaar H. ^{[1
]}

Faquih T. ^{[4
]}

El-Kalioby M. ^{[4
]}

Tahir A.I. ^{[2
,3
]}

Al Tassan N.A. ^{[2
,3
,4
]}

机构：

[1] Department of Neurosciences, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh

[2] Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh

[3] Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh

[4] Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh

来源：

BMC Research Notes | / 9卷 / 1期

关键词：

Parkinsonism; PLA2G6; Saudi patients;

D O I：

10.1186/s13104-016-2102-7

中图分类号：

学科分类号：

摘要：

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. © 2016 The Author(s).

引用

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